Canonical Allele Identifier: CA196756556
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs538057282
gnomAD v3: 9-97700049-A-G
gnomAD v4: 9-97700049-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700049A>G , CM000671.2:g.97700049A>G GRCh38
NC_000009.11:g.100462331A>G , CM000671.1:g.100462331A>G GRCh37
NC_000009.10:g.99502152A>G NCBI36
NG_011642.1:g.2361T>C , LRG_471:g.2361T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-58A>G (KRT18P13)
NR_147055.1:n.1523T>C (PTCSC2)