Canonical Allele Identifier: CA823187274
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs781427990
gnomAD v3: 6-2355656-A-C
gnomAD v4: 6-2355656-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355656A>C , CM000668.2:g.2355656A>C GRCh38
NC_000006.11:g.2355890A>C , CM000668.1:g.2355890A>C GRCh37
NC_000006.10:g.2300889A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26324A>C