Canonical Allele Identifier: CA1085350654
Gene: GMDS-DT HGNC NCBI

Linked Data

gnomAD v3: 6-2355718-T-G
gnomAD v4: 6-2355718-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355718T>G , CM000668.2:g.2355718T>G GRCh38
NC_000006.11:g.2355952T>G , CM000668.1:g.2355952T>G GRCh37
NC_000006.10:g.2300951T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26386T>G