Canonical Allele Identifier: CA565198518
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1329780107
gnomAD v2: 6-2355541-T-C
gnomAD v3: 6-2355307-T-C
gnomAD v4: 6-2355307-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355307T>C , CM000668.2:g.2355307T>C GRCh38
NC_000006.11:g.2355541T>C , CM000668.1:g.2355541T>C GRCh37
NC_000006.10:g.2300540T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+25975T>C