Canonical Allele Identifier: CA8916767
Community Standard Title: NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23916617A>G , CM000680.2:g.23916617A>G GRCh38
NC_000018.9:g.21496581A>G , CM000680.1:g.21496581A>G GRCh37
NC_000018.8:g.19750579A>G NCBI36
NG_007853.2:g.232020A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7845A>G MANE Select NP_937762.2:p.Pro2615=
ENST00000313654.14:c.7845A>G MANE Select ENSP00000324532.8:p.Pro2615=
NM_000227.6:c.3018A>G MANE Plus Clinical NP_000218.3:p.Pro1006=
ENST00000269217.11:c.3018A>G MANE Plus Clinical ENSP00000269217.5:p.Pro1006=
NM_000227.4:c.3018A>G NP_000218.3:p.Pro1006=
NM_000227.5:c.3018A>G NP_000218.3:p.Pro1006=
NM_001127717.2:c.7677A>G NP_001121189.2:p.Pro2559=
NM_001127717.3:c.7677A>G NP_001121189.2:p.Pro2559=
NM_001127717.4:c.7677A>G NP_001121189.2:p.Pro2559=
NM_001127718.2:c.2850A>G NP_001121190.2:p.Pro950=
NM_001127718.3:c.2850A>G NP_001121190.2:p.Pro950=
NM_001127718.4:c.2850A>G NP_001121190.2:p.Pro950=
NM_198129.2:c.7845A>G NP_937762.2:p.Pro2615=
NM_198129.3:c.7845A>G NP_937762.2:p.Pro2615=
ENST00000269217.10:c.3018A>G ENSP00000269217.5:p.Pro1006=
ENST00000313654.13:c.7845A>G ENSP00000324532.8:p.Pro2615=
ENST00000399516.7:c.7677A>G ENSP00000382432.2:p.Pro2559=
ENST00000586751.5:c.2623A>G
ENST00000587184.5:c.2850A>G ENSP00000466557.1:p.Pro950=
ENST00000588770.5:n.2423A>G
ENST00000649721.1:c.4440A>G ENSP00000497885.1:p.Pro1480=
XM_011525978.1:c.7872A>G XP_011524280.1:p.Pro2624=
XM_011525978.2:c.7872A>G XP_011524280.1:p.Pro2624=
XM_011525979.1:c.7863A>G XP_011524281.1:p.Pro2621=
XM_011525979.2:c.7863A>G XP_011524281.1:p.Pro2621=
XM_011525980.1:c.7854A>G XP_011524282.1:p.Pro2618=
XM_011525980.2:c.7854A>G XP_011524282.1:p.Pro2618=
XM_011525981.1:c.7740A>G XP_011524283.1:p.Pro2580=
XM_011525981.2:c.7740A>G XP_011524283.1:p.Pro2580=
XM_011525982.1:c.7575A>G XP_011524284.1:p.Pro2525=
XM_011525982.2:c.7575A>G XP_011524284.1:p.Pro2525=
XM_017025743.1:c.5724A>G XP_016881232.1:p.Pro1908=
XM_017025744.1:c.3414A>G XP_016881233.1:p.Pro1138=
XR_001753199.1:n.8113A>G