Canonical Allele Identifier: CA589582414
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1439799079
gnomAD v3: 9-97700045-G-A
gnomAD v4: 9-97700045-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700045G>A , CM000671.2:g.97700045G>A GRCh38
NC_000009.11:g.100462327G>A , CM000671.1:g.100462327G>A GRCh37
NC_000009.10:g.99502148G>A NCBI36
NG_011642.1:g.2365C>T , LRG_471:g.2365C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-62G>A (KRT18P13)
NR_147055.1:n.1527C>T (PTCSC2)