Canonical Allele Identifier: CA133694394
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs949661596
gnomAD v2: 6-2355635-C-T
gnomAD v3: 6-2355401-C-T
gnomAD v4: 6-2355401-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355401C>T , CM000668.2:g.2355401C>T GRCh38
NC_000006.11:g.2355635C>T , CM000668.1:g.2355635C>T GRCh37
NC_000006.10:g.2300634C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26069C>T