Canonical Allele Identifier: CA823187313
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1321157352
gnomAD v3: 6-2355719-T-A
gnomAD v4: 6-2355719-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355719T>A , CM000668.2:g.2355719T>A GRCh38
NC_000006.11:g.2355953T>A , CM000668.1:g.2355953T>A GRCh37
NC_000006.10:g.2300952T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26387T>A