Canonical Allele Identifier: CA10641872
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 309551
ClinVar RCV Id: RCV000318526
dbSNP Id: rs11549960
gnomAD v2: 12-52908541-C-T
gnomAD v3: 12-52514757-C-T
gnomAD v4: 12-52514757-C-T
MyVariant Identifiers: chr12:g.52908541C>T (hg19) chr12:g.52514757C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52514757C>T , CM000674.2:g.52514757C>T GRCh38
NC_000012.11:g.52908541C>T , CM000674.1:g.52908541C>T GRCh37
NC_000012.10:g.51194808C>T NCBI36
NG_008297.1:g.10703G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.*185G>A MANE Select ENSP00000252242.4:n.*185G>A
ENST00000252242.8:c.*185G>A ENSP00000252242.4:n.*185G>A
NM_000424.3:c.*185G>A NP_000415.2:n.*185G>A
NM_000424.4:c.*185G>A MANE Select NP_000415.2:n.*185G>A
Search 100 bp 5'
Search 100 bp 3'