Canonical Allele Identifier: CA193944083
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs764539116
gnomAD v2: 9-71193310-T-C
gnomAD v3: 9-68578394-T-C
gnomAD v4: 9-68578394-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578394T>C , CM000671.2:g.68578394T>C GRCh38
NC_000009.11:g.71193310T>C , CM000671.1:g.71193310T>C GRCh37
NC_000009.10:g.70383130T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35752T>C
XR_001746701.2:n.342+35752T>C