Canonical Allele Identifier: CA193944094
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs557814876
gnomAD v2: 9-71193417-G-A
gnomAD v3: 9-68578501-G-A
gnomAD v4: 9-68578501-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578501G>A , CM000671.2:g.68578501G>A GRCh38
NC_000009.11:g.71193417G>A , CM000671.1:g.71193417G>A GRCh37
NC_000009.10:g.70383237G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35859G>A
XR_001746701.2:n.342+35859G>A