Canonical Allele Identifier: CA466186143
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700130-C-A
MyVariant Identifiers: chr9:g.100462412C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700130C>A , CM000671.2:g.97700130C>A GRCh38
NC_000009.11:g.100462412C>A , CM000671.1:g.100462412C>A GRCh37
NC_000009.10:g.99502233C>A NCBI36
NG_011642.1:g.2280G>T , LRG_471:g.2280G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.686C>A (KRT18P13)
NR_147055.1:n.1501-59G>T (PTCSC2)