Canonical Allele Identifier: CA193944080
Gene: TMEM252-DT HGNC NCBI

Linked Data

dbSNP Id: rs1051866054
gnomAD v2: 9-71193281-C-T
gnomAD v3: 9-68578365-C-T
gnomAD v4: 9-68578365-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.68578365C>T , CM000671.2:g.68578365C>T GRCh38
NC_000009.11:g.71193281C>T , CM000671.1:g.71193281C>T GRCh37
NC_000009.10:g.70383101C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929903.1:n.449+35723C>T
XR_001746701.2:n.342+35723C>T