Canonical Allele Identifier: CA193944085
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs913017582
gnomAD v2: 9-71193321-A-G
gnomAD v3: 9-68578405-A-G
gnomAD v4: 9-68578405-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578405A>G , CM000671.2:g.68578405A>G GRCh38
NC_000009.11:g.71193321A>G , CM000671.1:g.71193321A>G GRCh37
NC_000009.10:g.70383141A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35763A>G
XR_001746701.2:n.342+35763A>G