Canonical Allele Identifier: CA347536546
Gene: IMMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86179462C>T , CM000664.2:g.86179462C>T GRCh38
NC_000002.11:g.86406585C>T , CM000664.1:g.86406585C>T GRCh37
NC_000002.10:g.86260096C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410111.8:c.280G>A MANE Select ENSP00000387262.3:p.Ala94Thr
ENST00000254636.9:c.19G>A ENSP00000254636.5:p.Ala7Thr
ENST00000409051.6:c.280G>A ENSP00000387227.2:p.Ala94Thr
ENST00000409258.2:c.280G>A ENSP00000387237.2:p.Ala94Thr
ENST00000410111.7:c.280G>A ENSP00000387262.3:p.Ala94Thr
ENST00000442664.6:c.280G>A ENSP00000407788.2:p.Ala94Thr
ENST00000449247.6:c.280G>A ENSP00000396899.2:p.Ala94Thr
ENST00000474969.5:n.333G>A
ENST00000486633.1:n.348G>A
ENST00000620815.4:c.280G>A ENSP00000482042.1:p.Ala94Thr
NM_001100169.1:c.280G>A NP_001093639.1:p.Ala94Thr
NM_001100170.1:c.280G>A NP_001093640.1:p.Ala94Thr
NM_006839.2:c.280G>A NP_006830.2:p.Ala94Thr
XM_005264110.3:c.280G>A XP_005264167.1:p.Ala94Thr
XM_005264113.1:c.280G>A XP_005264170.1:p.Ala94Thr
XM_005264114.1:c.280G>A XP_005264171.1:p.Ala94Thr
XM_005264110.4:c.280G>A XP_005264167.1:p.Ala94Thr
XM_005264113.2:c.280G>A XP_005264170.1:p.Ala94Thr
XM_005264114.2:c.280G>A XP_005264171.1:p.Ala94Thr
XM_011532497.3:c.-591G>A XP_011530799.1:n.-591G>A
XM_017003194.2:c.280G>A XP_016858683.1:p.Ala94Thr
XM_017003195.2:c.-627G>A XP_016858684.1:n.-627G>A
NM_001100169.2:c.280G>A NP_001093639.1:p.Ala94Thr
NM_001100170.2:c.280G>A NP_001093640.1:p.Ala94Thr
NM_006839.3:c.280G>A MANE Select NP_006830.2:p.Ala94Thr
NM_001400086.1:c.280G>A NP_001387015.1:p.Ala94Thr
NM_001400087.1:c.280G>A NP_001387016.1:p.Ala94Thr
NM_001400088.1:c.280G>A NP_001387017.1:p.Ala94Thr
NM_001400089.1:c.280G>A NP_001387018.1:p.Ala94Thr
NM_001400090.1:c.280G>A NP_001387019.1:p.Ala94Thr
NM_001400091.1:c.280G>A NP_001387020.1:p.Ala94Thr
NM_001400100.1:c.280G>A NP_001387029.1:p.Ala94Thr
NM_001400101.1:c.280G>A NP_001387030.1:p.Ala94Thr
NM_001400102.1:c.280G>A NP_001387031.1:p.Ala94Thr
NM_001400103.1:c.280G>A NP_001387032.1:p.Ala94Thr
NM_001400104.1:c.280G>A NP_001387033.1:p.Ala94Thr
NM_001400105.1:c.280G>A NP_001387034.1:p.Ala94Thr
NM_001400106.1:c.280G>A NP_001387035.1:p.Ala94Thr
NM_001400107.1:c.280G>A NP_001387036.1:p.Ala94Thr
NM_001400108.1:c.280G>A NP_001387037.1:p.Ala94Thr
NM_001400109.1:c.280G>A NP_001387038.1:p.Ala94Thr
NM_001400110.1:c.280G>A NP_001387039.1:p.Ala94Thr
NM_001400111.1:c.280G>A NP_001387040.1:p.Ala94Thr
NM_001400112.1:c.280G>A NP_001387041.1:p.Ala94Thr
NM_001400113.1:c.280G>A NP_001387042.1:p.Ala94Thr
NM_001400114.1:c.19G>A NP_001387043.1:p.Ala7Thr
NM_001400115.1:c.19G>A NP_001387044.1:p.Ala7Thr
NM_001400116.1:c.280G>A NP_001387045.1:p.Ala94Thr
NM_001400117.1:c.19G>A NP_001387046.1:p.Ala7Thr
NM_001400118.1:c.19G>A NP_001387047.1:p.Ala7Thr
NM_001400119.1:c.19G>A NP_001387048.1:p.Ala7Thr
NM_001400120.1:c.280G>A NP_001387049.1:p.Ala94Thr
NM_001400121.1:c.280G>A NP_001387050.1:p.Ala94Thr
NM_001400122.1:c.280G>A NP_001387051.1:p.Ala94Thr
NM_001400123.1:c.-591G>A NP_001387052.1:n.-591G>A
NM_001400124.1:c.-627G>A NP_001387053.1:n.-627G>A
NM_001400125.1:c.-624G>A NP_001387054.1:n.-624G>A
NM_001400126.1:c.-621G>A NP_001387055.1:n.-621G>A
NM_001400127.1:c.-594G>A NP_001387056.1:n.-594G>A
NM_001400128.1:c.-591G>A NP_001387057.1:n.-591G>A
NM_001400129.1:c.-534G>A NP_001387058.1:n.-534G>A
NM_001400130.1:c.-400G>A NP_001387059.1:n.-400G>A
NM_001400131.1:c.-496G>A NP_001387060.1:n.-496G>A
NM_001400132.1:c.280G>A NP_001387061.1:p.Ala94Thr
NM_001400133.1:c.280G>A NP_001387062.1:p.Ala94Thr
NM_001400134.1:c.280G>A NP_001387063.1:p.Ala94Thr
NM_001400135.1:c.280G>A NP_001387064.1:p.Ala94Thr
NM_001400137.1:c.19G>A NP_001387066.1:p.Ala7Thr
NM_001400138.1:c.-909G>A NP_001387067.1:n.-909G>A
NM_001400140.1:c.280G>A NP_001387069.1:p.Ala94Thr
NM_001400142.1:c.280G>A NP_001387071.1:p.Ala94Thr
NM_001400143.1:c.280G>A NP_001387072.1:p.Ala94Thr
NM_001400144.1:c.280G>A NP_001387073.1:p.Ala94Thr
NM_001400145.1:c.280G>A NP_001387074.1:p.Ala94Thr
NR_174393.1:n.360G>A
NR_174394.1:n.360G>A
NR_174395.1:n.360G>A
NR_174396.1:n.360G>A
NR_174397.1:n.360G>A
NR_174398.1:n.360G>A
NR_174399.1:n.360G>A
NR_174400.1:n.360G>A
NR_174401.1:n.360G>A
NR_174402.1:n.360G>A