Canonical Allele Identifier: CA565198521
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1346644528
gnomAD v2: 6-2355595-A-G
gnomAD v3: 6-2355361-A-G
gnomAD v4: 6-2355361-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355361A>G , CM000668.2:g.2355361A>G GRCh38
NC_000006.11:g.2355595A>G , CM000668.1:g.2355595A>G GRCh37
NC_000006.10:g.2300594A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26029A>G