Canonical Allele Identifier: CA823187293
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1352194669
gnomAD v3: 6-2355693-A-T
gnomAD v4: 6-2355693-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355693A>T , CM000668.2:g.2355693A>T GRCh38
NC_000006.11:g.2355927A>T , CM000668.1:g.2355927A>T GRCh37
NC_000006.10:g.2300926A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26361A>T