Canonical Allele Identifier: CA466186127
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700127-T-A
MyVariant Identifiers: chr9:g.100462409T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700127T>A , CM000671.2:g.97700127T>A GRCh38
NC_000009.11:g.100462409T>A , CM000671.1:g.100462409T>A GRCh37
NC_000009.10:g.99502230T>A NCBI36
NG_011642.1:g.2283A>T , LRG_471:g.2283A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400056.3:n.683T>A (KRT18P13)
NR_147055.1:n.1501-56A>T (PTCSC2)