Canonical Allele Identifier: CA2740714510
Gene: GMDS-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355711T>C , CM000668.2:g.2355711T>C GRCh38
NC_000006.11:g.2355945T>C , CM000668.1:g.2355945T>C GRCh37
NC_000006.10:g.2300944T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26379T>C