Canonical Allele Identifier: CA1425382244
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037336G= , CM000665.2:g.183037336G= GRCh38
NC_000003.11:g.182755124G= , CM000665.1:g.182755124G= GRCh37
NC_000003.10:g.184237818G= NCBI36
NG_008100.1:g.67242C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1476C= MANE Select ENSP00000265594.4:p.His492=
ENST00000265594.8:c.1476C= ENSP00000265594.4:p.His492=
ENST00000476176.5:c.1335C= ENSP00000420433.1:p.His445=
ENST00000489909.1:n.20C=
ENST00000492597.5:c.1149C= ENSP00000419898.1:p.His383=
ENST00000495767.5:c.*1057C= ENSP00000419658.1:n.*1057C=
ENST00000497830.5:c.*1073C= ENSP00000420088.1:n.*1073C=
ENST00000497959.5:c.1263+1690C= ENSP00000420648.1:n.1263+1690C=
ENST00000539926.5:c.1026C= ENSP00000441253.2:p.His342=
ENST00000610757.4:c.1026C= ENSP00000480435.1:p.His342=
ENST00000629669.2:c.1263+1690C= ENSP00000486824.1:n.1263+1690C=
NM_001293273.1:c.1125C= NP_001280202.1:p.His375=
NM_020166.4:c.1476C= NP_064551.3:p.His492=
NR_120639.1:n.1390C=
NR_120640.1:n.2044+1690C=
XM_006713702.1:c.1149C= XP_006713765.1:p.His383=
XM_011512992.1:c.1362C= XP_011511294.1:p.His454=
XM_011512993.1:c.1377+1690C= XP_011511295.1:n.1377+1690C=
XR_241502.2:n.1524+1690C=
XR_924159.1:n.1623C=
NM_001363880.1:c.1149C= NP_001350809.1:p.His383=
XM_011512992.2:c.1362C= XP_011511294.1:p.His454=
XR_001740207.2:n.1599C=
XR_001740208.2:n.1599C=
XR_001740209.2:n.1470+1690C=
XR_001740210.1:n.1429C=
XR_002959553.1:n.1599C=
XR_002959554.1:n.1500+1690C=
XR_241502.3:n.1470+1690C=
NM_020166.5:c.1476C= MANE Select NP_064551.3:p.His492=
NM_001293273.2:c.1125C= NP_001280202.1:p.His375=
NR_120639.2:n.1299C=
NR_120640.2:n.2044+1690C=