Canonical Allele Identifier: CA466186182
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700138-G-T
MyVariant Identifiers: chr9:g.100462420G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700138G>T , CM000671.2:g.97700138G>T GRCh38
NC_000009.11:g.100462420G>T , CM000671.1:g.100462420G>T GRCh37
NC_000009.10:g.99502241G>T NCBI36
NG_011642.1:g.2272C>A , LRG_471:g.2272C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.694G>T (KRT18P13)
NR_147055.1:n.1501-67C>A (PTCSC2)