Canonical Allele Identifier: CA12382673
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs74653118
gnomAD v2: 6-2355788-G-A
gnomAD v3: 6-2355554-G-A
gnomAD v4: 6-2355554-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355554G>A , CM000668.2:g.2355554G>A GRCh38
NC_000006.11:g.2355788G>A , CM000668.1:g.2355788G>A GRCh37
NC_000006.10:g.2300787G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26222G>A