Canonical Allele Identifier: CA384923523
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800552
ClinVar RCV Id: RCV002461691
MyVariant Identifiers: chr12:g.52910452A>G (hg19) chr12:g.52516668A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516668A>G , CM000674.2:g.52516668A>G GRCh38
NC_000012.11:g.52910452A>G , CM000674.1:g.52910452A>G GRCh37
NC_000012.10:g.51196719A>G NCBI36
NG_008297.1:g.8792T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1408T>C MANE Select ENSP00000252242.4:p.Tyr470His
ENST00000252242.8:c.1408T>C ENSP00000252242.4:p.Tyr470His
ENST00000548409.5:c.530T>C
ENST00000549511.5:n.615T>C
ENST00000552629.5:n.1506T>C
NM_000424.3:c.1408T>C NP_000415.2:p.Tyr470His
NM_000424.4:c.1408T>C MANE Select NP_000415.2:p.Tyr470His
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