Canonical Allele Identifier: CA133694417
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs777896435
gnomAD v2: 6-2355825-G-A
gnomAD v3: 6-2355591-G-A
gnomAD v4: 6-2355591-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355591G>A , CM000668.2:g.2355591G>A GRCh38
NC_000006.11:g.2355825G>A , CM000668.1:g.2355825G>A GRCh37
NC_000006.10:g.2300824G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26259G>A