Canonical Allele Identifier: CA823187319
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1385886620
gnomAD v3: 6-2355724-A-C
gnomAD v4: 6-2355724-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355724A>C , CM000668.2:g.2355724A>C GRCh38
NC_000006.11:g.2355958A>C , CM000668.1:g.2355958A>C GRCh37
NC_000006.10:g.2300957A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26392A>C