Canonical Allele Identifier: CA466186193
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700140-G-T
MyVariant Identifiers: chr9:g.100462422G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700140G>T , CM000671.2:g.97700140G>T GRCh38
NC_000009.11:g.100462422G>T , CM000671.1:g.100462422G>T GRCh37
NC_000009.10:g.99502243G>T NCBI36
NG_011642.1:g.2270C>A , LRG_471:g.2270C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.696G>T (KRT18P13)
NR_147055.1:n.1501-69C>A (PTCSC2)