Canonical Allele Identifier: CA193944059
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs566581928
gnomAD v2: 9-71193089-G-A
gnomAD v3: 9-68578173-G-A
gnomAD v4: 9-68578173-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578173G>A , CM000671.2:g.68578173G>A GRCh38
NC_000009.11:g.71193089G>A , CM000671.1:g.71193089G>A GRCh37
NC_000009.10:g.70382909G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35531G>A
XR_001746701.2:n.342+35531G>A