Canonical Allele Identifier: CA133694392
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs144540201
gnomAD v2: 6-2355613-T-G
gnomAD v3: 6-2355379-T-G
gnomAD v4: 6-2355379-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355379T>G , CM000668.2:g.2355379T>G GRCh38
NC_000006.11:g.2355613T>G , CM000668.1:g.2355613T>G GRCh37
NC_000006.10:g.2300612T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26047T>G