Canonical Allele Identifier: CA15572615
Gene: PCMTD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1015213
gnomAD v2: 8-52887541-C-T
gnomAD v3: 8-51974981-C-T
gnomAD v4: 8-51974981-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.51974981C>T , CM000670.2:g.51974981C>T GRCh38
NC_000008.10:g.52887541C>T , CM000670.1:g.52887541C>T GRCh37
NC_000008.9:g.53050094C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928873.1:n.618-47435C>T