Canonical Allele Identifier: CA1866594440
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1829160557
gnomAD v4: 9-97700030-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700030G>T , CM000671.2:g.97700030G>T GRCh38
NC_000009.11:g.100462312G>T , CM000671.1:g.100462312G>T GRCh37
NC_000009.10:g.99502133G>T NCBI36
NG_011642.1:g.2380C>A , LRG_471:g.2380C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-77G>T (KRT18P13)
NR_147055.1:n.1542C>A (PTCSC2)