Canonical Allele Identifier: CA384929257
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2631461
ClinVar RCV Id: RCV003404584

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519863A>C , CM000674.2:g.52519863A>C GRCh38
NC_000012.11:g.52913647A>C , CM000674.1:g.52913647A>C GRCh37
NC_000012.10:g.51199914A>C NCBI36
NG_008297.1:g.5597T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.434T>G MANE Select ENSP00000252242.4:p.Val145Gly
ENST00000252242.8:c.434T>G ENSP00000252242.4:p.Val145Gly
ENST00000549420.1:c.104T>G ENSP00000447209.1:p.Val35Gly
ENST00000551275.1:c.329T>G ENSP00000448041.1:p.Val110Gly
ENST00000552629.5:n.532T>G
NM_000424.3:c.434T>G NP_000415.2:p.Val145Gly
NM_000424.4:c.434T>G MANE Select NP_000415.2:p.Val145Gly