Canonical Allele Identifier: CA217343
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66579
ClinVar RCV Id: RCV000057001
dbSNP Id: rs267607464
MyVariant Identifiers: chr12:g.52886486C>T (hg19) chr12:g.52492702C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492702C>T , CM000674.2:g.52492702C>T GRCh38
NC_000012.11:g.52886486C>T , CM000674.1:g.52886486C>T GRCh37
NC_000012.10:g.51172753C>T NCBI36
NG_008298.1:g.5696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.487G>A MANE Select ENSP00000369317.3:p.Glu163Lys
ENST00000330722.6:c.487G>A ENSP00000369317.3:p.Glu163Lys
ENST00000549898.5:n.8G>A
NM_005554.3:c.487G>A NP_005545.1:p.Glu163Lys
NM_005554.4:c.487G>A MANE Select NP_005545.1:p.Glu163Lys
Search 100 bp 5'
Search 100 bp 3'