Canonical Allele Identifier: CA1866594447
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1829160595
gnomAD v4: 9-97700035-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700035C>G , CM000671.2:g.97700035C>G GRCh38
NC_000009.11:g.100462317C>G , CM000671.1:g.100462317C>G GRCh37
NC_000009.10:g.99502138C>G NCBI36
NG_011642.1:g.2375G>C , LRG_471:g.2375G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-72C>G (KRT18P13)
NR_147055.1:n.1537G>C (PTCSC2)