Canonical Allele Identifier: CA377361677
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276403A>C , CM000672.2:g.80276403A>C GRCh38
NC_000010.10:g.82036159A>C , CM000672.1:g.82036159A>C GRCh37
NC_000010.9:g.82026139A>C NCBI36
NG_008083.1:g.18276T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.741T>G MANE Select ENSP00000361287.3:p.Ser247Arg
ENST00000372213.7:c.741T>G ENSP00000361287.3:p.Ser247Arg
NM_000429.2:c.741T>G NP_000420.1:p.Ser247Arg
XM_005269842.3:c.741T>G XP_005269899.1:p.Ser247Arg
XM_005269843.3:c.618T>G XP_005269900.1:p.Ser206Arg
NM_000429.3:c.741T>G MANE Select NP_000420.1:p.Ser247Arg