Canonical Allele Identifier: CA193944064
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs533980562
gnomAD v3: 9-68578223-C-T
gnomAD v4: 9-68578223-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578223C>T , CM000671.2:g.68578223C>T GRCh38
NC_000009.11:g.71193139C>T , CM000671.1:g.71193139C>T GRCh37
NC_000009.10:g.70382959C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35581C>T
XR_001746701.2:n.342+35581C>T