Canonical Allele Identifier: CA377360593
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275043C>A , CM000672.2:g.80275043C>A GRCh38
NC_000010.10:g.82034799C>A , CM000672.1:g.82034799C>A GRCh37
NC_000010.9:g.82024779C>A NCBI36
NG_008083.1:g.19636G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.925G>T MANE Select ENSP00000361287.3:p.Gly309Trp
ENST00000372213.7:c.925G>T ENSP00000361287.3:p.Gly309Trp
ENST00000480845.1:n.157G>T
ENST00000485270.5:n.437G>T
NM_000429.2:c.925G>T NP_000420.1:p.Gly309Trp
XM_005269842.3:c.925G>T XP_005269899.1:p.Gly309Trp
XM_005269843.3:c.802G>T XP_005269900.1:p.Gly268Trp
NM_000429.3:c.925G>T MANE Select NP_000420.1:p.Gly309Trp