Canonical Allele Identifier: CA114838
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1204
dbSNP Id: rs118204003

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274535G>A , CM000672.2:g.80274535G>A GRCh38
NC_000010.10:g.82034291G>A , CM000672.1:g.82034291G>A GRCh37
NC_000010.9:g.82024271G>A NCBI36
NG_008083.1:g.20144C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.1070C>T MANE Select ENSP00000361287.3:p.Pro357Leu
ENST00000372213.7:c.1070C>T ENSP00000361287.3:p.Pro357Leu
ENST00000480845.1:n.302C>T
ENST00000485270.5:n.582C>T
NM_000429.2:c.1070C>T NP_000420.1:p.Pro357Leu
XM_005269842.3:c.1070C>T XP_005269899.1:p.Pro357Leu
XM_005269843.3:c.947C>T XP_005269900.1:p.Pro316Leu
NM_000429.3:c.1070C>T MANE Select NP_000420.1:p.Pro357Leu