Canonical Allele Identifier: CA193944068
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs915173149
gnomAD v2: 9-71193172-C-T
gnomAD v3: 9-68578256-C-T
gnomAD v4: 9-68578256-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578256C>T , CM000671.2:g.68578256C>T GRCh38
NC_000009.11:g.71193172C>T , CM000671.1:g.71193172C>T GRCh37
NC_000009.10:g.70382992C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929903.1:n.449+35614C>T
XR_001746701.2:n.342+35614C>T