Canonical Allele Identifier: CA384923547
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 429584
ClinVar RCV Id: RCV000493793
dbSNP Id: rs1131691471
gnomAD v4: 12-52516674-C-A
MyVariant Identifiers: chr12:g.52910458C>A (hg19) chr12:g.52516674C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516674C>A , CM000674.2:g.52516674C>A GRCh38
NC_000012.11:g.52910458C>A , CM000674.1:g.52910458C>A GRCh37
NC_000012.10:g.51196725C>A NCBI36
NG_008297.1:g.8786G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1402G>T MANE Select ENSP00000252242.4:p.Ala468Ser
ENST00000252242.8:c.1402G>T ENSP00000252242.4:p.Ala468Ser
ENST00000548409.5:c.524G>T
ENST00000549511.5:n.609G>T
ENST00000552629.5:n.1500G>T
NM_000424.3:c.1402G>T NP_000415.2:p.Ala468Ser
NM_000424.4:c.1402G>T MANE Select NP_000415.2:p.Ala468Ser
Search 100 bp 5'
Search 100 bp 3'