Canonical Allele Identifier: CA2690903620
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700027-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700027C>A , CM000671.2:g.97700027C>A GRCh38
NC_000009.11:g.100462309C>A , CM000671.1:g.100462309C>A GRCh37
NC_000009.10:g.99502130C>A NCBI36
NG_011642.1:g.2383G>T , LRG_471:g.2383G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-80C>A (KRT18P13)
NR_147055.1:n.1545G>T (PTCSC2)