Canonical Allele Identifier: CA377362890
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280313A>C , CM000672.2:g.80280313A>C GRCh38
NC_000010.10:g.82040069A>C , CM000672.1:g.82040069A>C GRCh37
NC_000010.9:g.82030049A>C NCBI36
NG_008083.1:g.14366T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.409T>G MANE Select ENSP00000361287.3:p.Leu137Val
ENST00000372213.7:c.409T>G ENSP00000361287.3:p.Leu137Val
ENST00000455001.1:c.220T>G ENSP00000414961.1:p.Leu74Val
NM_000429.2:c.409T>G NP_000420.1:p.Leu137Val
XM_005269842.3:c.409T>G XP_005269899.1:p.Leu137Val
XM_005269843.3:c.286T>G XP_005269900.1:p.Leu96Val
NM_000429.3:c.409T>G MANE Select NP_000420.1:p.Leu137Val