Canonical Allele Identifier: CA377362023
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276475C>G , CM000672.2:g.80276475C>G GRCh38
NC_000010.10:g.82036231C>G , CM000672.1:g.82036231C>G GRCh37
NC_000010.9:g.82026211C>G NCBI36
NG_008083.1:g.18204G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.669G>C MANE Select ENSP00000361287.3:p.Lys223Asn
ENST00000372213.7:c.669G>C ENSP00000361287.3:p.Lys223Asn
NM_000429.2:c.669G>C NP_000420.1:p.Lys223Asn
XM_005269842.3:c.669G>C XP_005269899.1:p.Lys223Asn
XM_005269843.3:c.546G>C XP_005269900.1:p.Lys182Asn
NM_000429.3:c.669G>C MANE Select NP_000420.1:p.Lys223Asn