Canonical Allele Identifier: CA377360520
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274650A>C , CM000672.2:g.80274650A>C GRCh38
NC_000010.10:g.82034406A>C , CM000672.1:g.82034406A>C GRCh37
NC_000010.9:g.82024386A>C NCBI36
NG_008083.1:g.20029T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.955T>G MANE Select ENSP00000361287.3:p.Ser319Ala
ENST00000372213.7:c.955T>G ENSP00000361287.3:p.Ser319Ala
ENST00000480845.1:n.187T>G
ENST00000485270.5:n.467T>G
NM_000429.2:c.955T>G NP_000420.1:p.Ser319Ala
XM_005269842.3:c.955T>G XP_005269899.1:p.Ser319Ala
XM_005269843.3:c.832T>G XP_005269900.1:p.Ser278Ala
NM_000429.3:c.955T>G MANE Select NP_000420.1:p.Ser319Ala