Canonical Allele Identifier: CA470467171
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82033558A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273802A>C , CM000672.2:g.80273802A>C GRCh38
NC_000010.10:g.82033558A>C , CM000672.1:g.82033558A>C GRCh37
NC_000010.9:g.82023538A>C NCBI36
NG_008083.1:g.20877T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1167T>G MANE Select ENSP00000361287.3:p.Val389=
ENST00000372213.7:c.1167T>G ENSP00000361287.3:p.Val389=
ENST00000480845.1:n.399T>G
ENST00000485270.5:n.679T>G
NM_000429.2:c.1167T>G NP_000420.1:p.Val389=
XM_005269842.3:c.1167T>G XP_005269899.1:p.Val389=
XM_005269843.3:c.1044T>G XP_005269900.1:p.Val348=
NM_000429.3:c.1167T>G MANE Select NP_000420.1:p.Val389=