Canonical Allele Identifier: CA133694414
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs977821014
gnomAD v3: 6-2355561-C-T
gnomAD v4: 6-2355561-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355561C>T , CM000668.2:g.2355561C>T GRCh38
NC_000006.11:g.2355795C>T , CM000668.1:g.2355795C>T GRCh37
NC_000006.10:g.2300794C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26229C>T