Canonical Allele Identifier: CA196756557
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs556347860
gnomAD v2: 9-100462332-G-A
gnomAD v3: 9-97700050-G-A
gnomAD v4: 9-97700050-G-A
MyVariant Identifiers: chr9:g.100462332G>A (hg19) chr9:g.97700050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700050G>A , CM000671.2:g.97700050G>A GRCh38
NC_000009.11:g.100462332G>A , CM000671.1:g.100462332G>A GRCh37
NC_000009.10:g.99502153G>A NCBI36
NG_011642.1:g.2360C>T , LRG_471:g.2360C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.663-57G>A (KRT18P13)
NR_147055.1:n.1522C>T (PTCSC2)
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