Canonical Allele Identifier: CA133694415
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1030364767
gnomAD v2: 6-2355802-G-A
gnomAD v3: 6-2355568-G-A
gnomAD v4: 6-2355568-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355568G>A , CM000668.2:g.2355568G>A GRCh38
NC_000006.11:g.2355802G>A , CM000668.1:g.2355802G>A GRCh37
NC_000006.10:g.2300801G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26236G>A