Canonical Allele Identifier: CA2573053319
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1335044
ClinVar RCV Id: RCV001815709
dbSNP Id: rs1564645686

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275198_80275200del , CM000672.2:g.80275198_80275200del GRCh38
NC_000010.10:g.82034954_82034956del , CM000672.1:g.82034954_82034956del GRCh37
NC_000010.9:g.82024934_82024936del NCBI36
NG_008083.1:g.19481_19483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.770_772del
ENST00000372213.7:c.770_772del
ENST00000485270.5:n.282_284del
NM_000429.2:c.770_772del
XM_005269842.3:c.770_772del
XM_005269843.3:c.647_649del
NM_000429.3:c.770_772del