Canonical Allele Identifier: CA466186137
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1261901068
gnomAD v4: 9-97700129-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700129G>A , CM000671.2:g.97700129G>A GRCh38
NC_000009.11:g.100462411G>A , CM000671.1:g.100462411G>A GRCh37
NC_000009.10:g.99502232G>A NCBI36
NG_011642.1:g.2281C>T , LRG_471:g.2281C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.685G>A (KRT18P13)
NR_147055.1:n.1501-58C>T (PTCSC2)