Canonical Allele Identifier: CA2690903629
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700036-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700036T>G , CM000671.2:g.97700036T>G GRCh38
NC_000009.11:g.100462318T>G , CM000671.1:g.100462318T>G GRCh37
NC_000009.10:g.99502139T>G NCBI36
NG_011642.1:g.2374A>C , LRG_471:g.2374A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-71T>G (KRT18P13)
NR_147055.1:n.1536A>C (PTCSC2)