Canonical Allele Identifier: CA133694433
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs949572245
gnomAD v3: 6-2355727-T-G
gnomAD v4: 6-2355727-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355727T>G , CM000668.2:g.2355727T>G GRCh38
NC_000006.11:g.2355961T>G , CM000668.1:g.2355961T>G GRCh37
NC_000006.10:g.2300960T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26395T>G