Canonical Allele Identifier: CA377360968
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275193-C-T
MyVariant Identifiers: chr10:g.82034949C>T (hg19) chr10:g.80275193C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275193C>T , CM000672.2:g.80275193C>T GRCh38
NC_000010.10:g.82034949C>T , CM000672.1:g.82034949C>T GRCh37
NC_000010.9:g.82024929C>T NCBI36
NG_008083.1:g.19486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.775G>A MANE Select ENSP00000361287.3:p.Ala259Thr
ENST00000372213.7:c.775G>A ENSP00000361287.3:p.Ala259Thr
ENST00000480845.1:n.7G>A
ENST00000485270.5:n.287G>A
NM_000429.2:c.775G>A NP_000420.1:p.Ala259Thr
XM_005269842.3:c.775G>A XP_005269899.1:p.Ala259Thr
XM_005269843.3:c.652G>A XP_005269900.1:p.Ala218Thr
NM_000429.3:c.775G>A MANE Select NP_000420.1:p.Ala259Thr
Search 100 bp 5'
Search 100 bp 3'