Canonical Allele Identifier: CA12286646
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs2505675
gnomAD v2: 6-2355675-C-T
gnomAD v3: 6-2355441-C-T
gnomAD v4: 6-2355441-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355441C>T , CM000668.2:g.2355441C>T GRCh38
NC_000006.11:g.2355675C>T , CM000668.1:g.2355675C>T GRCh37
NC_000006.10:g.2300674C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26109C>T