Canonical Allele Identifier: CA2690903644
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

gnomAD v4: 9-97700048-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700048G>A , CM000671.2:g.97700048G>A GRCh38
NC_000009.11:g.100462330G>A , CM000671.1:g.100462330G>A GRCh37
NC_000009.10:g.99502151G>A NCBI36
NG_011642.1:g.2362C>T , LRG_471:g.2362C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-59G>A (KRT18P13)
NR_147055.1:n.1524C>T (PTCSC2)
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