Canonical Allele Identifier: CA377360219
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273874G>C , CM000672.2:g.80273874G>C GRCh38
NC_000010.10:g.82033630G>C , CM000672.1:g.82033630G>C GRCh37
NC_000010.9:g.82023610G>C NCBI36
NG_008083.1:g.20805C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1095C>G MANE Select ENSP00000361287.3:p.Asp365Glu
ENST00000372213.7:c.1095C>G ENSP00000361287.3:p.Asp365Glu
ENST00000480845.1:n.327C>G
ENST00000485270.5:n.607C>G
NM_000429.2:c.1095C>G NP_000420.1:p.Asp365Glu
XM_005269842.3:c.1095C>G XP_005269899.1:p.Asp365Glu
XM_005269843.3:c.972C>G XP_005269900.1:p.Asp324Glu
NM_000429.3:c.1095C>G MANE Select NP_000420.1:p.Asp365Glu