Canonical Allele Identifier: CA15630554
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 878669
ClinVar RCV Id: RCV001105460
dbSNP Id: rs183652762
gnomAD v2: 10-82033326-C-T
gnomAD v3: 10-80273570-C-T
gnomAD v4: 10-80273570-C-T
MyVariant Identifiers: chr10:g.82033326C>T (hg19) chr10:g.80273570C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273570C>T , CM000672.2:g.80273570C>T GRCh38
NC_000010.10:g.82033326C>T , CM000672.1:g.82033326C>T GRCh37
NC_000010.9:g.82023306C>T NCBI36
NG_008083.1:g.21109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*211G>A MANE Select ENSP00000361287.3:n.*211G>A
ENST00000372213.7:c.*211G>A ENSP00000361287.3:n.*211G>A
ENST00000480845.1:n.620+11G>A
ENST00000485270.5:n.911G>A
NM_000429.2:c.*211G>A NP_000420.1:n.*211G>A
XM_005269842.3:c.*211G>A XP_005269899.1:n.*211G>A
XM_005269843.3:c.*211G>A XP_005269900.1:n.*211G>A
NM_000429.3:c.*211G>A MANE Select NP_000420.1:n.*211G>A
Search 100 bp 5'
Search 100 bp 3'