Canonical Allele Identifier: CA466186134
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700128-T-C
MyVariant Identifiers: chr9:g.100462410T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700128T>C , CM000671.2:g.97700128T>C GRCh38
NC_000009.11:g.100462410T>C , CM000671.1:g.100462410T>C GRCh37
NC_000009.10:g.99502231T>C NCBI36
NG_011642.1:g.2282A>G , LRG_471:g.2282A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.684T>C (KRT18P13)
NR_147055.1:n.1501-57A>G (PTCSC2)