Canonical Allele Identifier: CA565198531
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1192144698
gnomAD v2: 6-2355966-G-C
gnomAD v3: 6-2355732-G-C
gnomAD v4: 6-2355732-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355732G>C , CM000668.2:g.2355732G>C GRCh38
NC_000006.11:g.2355966G>C , CM000668.1:g.2355966G>C GRCh37
NC_000006.10:g.2300965G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26400G>C