Canonical Allele Identifier: CA13016212
Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs10817938
gnomAD v2: 9-100462409-T-C
gnomAD v3: 9-97700127-T-C
gnomAD v4: 9-97700127-T-C
MyVariant Identifiers: chr9:g.100462409T>C (hg19) chr9:g.97700127T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97700127T>C , CM000671.2:g.97700127T>C GRCh38
NC_000009.11:g.100462409T>C , CM000671.1:g.100462409T>C GRCh37
NC_000009.10:g.99502230T>C NCBI36
NG_011642.1:g.2283A>G , LRG_471:g.2283A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400056.3:n.683T>C (KRT18P13)
NR_147055.1:n.1501-56A>G (PTCSC2)
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