Canonical Allele Identifier: CA377362608
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280181T>C , CM000672.2:g.80280181T>C GRCh38
NC_000010.10:g.82039937T>C , CM000672.1:g.82039937T>C GRCh37
NC_000010.9:g.82029917T>C NCBI36
NG_008083.1:g.14498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.541A>G MANE Select ENSP00000361287.3:p.Lys181Glu
ENST00000372213.7:c.541A>G ENSP00000361287.3:p.Lys181Glu
ENST00000455001.1:c.352A>G ENSP00000414961.1:p.Lys118Glu
NM_000429.2:c.541A>G NP_000420.1:p.Lys181Glu
XM_005269842.3:c.541A>G XP_005269899.1:p.Lys181Glu
XM_005269843.3:c.418A>G XP_005269900.1:p.Lys140Glu
NM_000429.3:c.541A>G MANE Select NP_000420.1:p.Lys181Glu