Canonical Allele Identifier: CA210320444
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 878668
ClinVar RCV Id: RCV001105459
dbSNP Id: rs76913733
gnomAD v2: 10-82033262-G-A
gnomAD v3: 10-80273506-G-A
gnomAD v4: 10-80273506-G-A
MyVariant Identifiers: chr10:g.82033262G>A (hg19) chr10:g.80273506G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273506G>A , CM000672.2:g.80273506G>A GRCh38
NC_000010.10:g.82033262G>A , CM000672.1:g.82033262G>A GRCh37
NC_000010.9:g.82023242G>A NCBI36
NG_008083.1:g.21173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*275C>T MANE Select ENSP00000361287.3:n.*275C>T
ENST00000372213.7:c.*275C>T ENSP00000361287.3:n.*275C>T
ENST00000480845.1:n.620+75C>T
ENST00000485270.5:n.975C>T
NM_000429.2:c.*275C>T NP_000420.1:n.*275C>T
XM_005269842.3:c.*275C>T XP_005269899.1:n.*275C>T
XM_005269843.3:c.*275C>T XP_005269900.1:n.*275C>T
NM_000429.3:c.*275C>T MANE Select NP_000420.1:n.*275C>T
Search 100 bp 5'
Search 100 bp 3'