Canonical Allele Identifier: CA377362641
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 503624
ClinVar RCV Id: RCV000598579
dbSNP Id: rs1203137107
MyVariant Identifiers: chr10:g.82039954C>T (hg19) chr10:g.80280198C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280198C>T , CM000672.2:g.80280198C>T GRCh38
NC_000010.10:g.82039954C>T , CM000672.1:g.82039954C>T GRCh37
NC_000010.9:g.82029934C>T NCBI36
NG_008083.1:g.14481G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.524G>A MANE Select ENSP00000361287.3:p.Trp175Ter
ENST00000372213.7:c.524G>A ENSP00000361287.3:p.Trp175Ter
ENST00000455001.1:c.335G>A ENSP00000414961.1:p.Trp112Ter
NM_000429.2:c.524G>A NP_000420.1:p.Trp175Ter
XM_005269842.3:c.524G>A XP_005269899.1:p.Trp175Ter
XM_005269843.3:c.401G>A XP_005269900.1:p.Trp134Ter
NM_000429.3:c.524G>A MANE Select NP_000420.1:p.Trp175Ter
Search 100 bp 5'
Search 100 bp 3'