Canonical Allele Identifier: CA124169
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 14636
ClinVar RCV Id: RCV000015742 RCV000056998
dbSNP Id: rs60554162
MyVariant Identifiers: chr12:g.52882122C>T (hg19) chr12:g.52488338C>T (hg38)
PubMed: PMID:11886499
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488338C>T , CM000674.2:g.52488338C>T GRCh38
NC_000012.11:g.52882122C>T , CM000674.1:g.52882122C>T GRCh37
NC_000012.10:g.51168389C>T NCBI36
NG_008298.1:g.10060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1414G>A MANE Select ENSP00000369317.3:p.Glu472Lys
ENST00000330722.6:c.1414G>A ENSP00000369317.3:p.Glu472Lys
NM_005554.3:c.1414G>A NP_005545.1:p.Glu472Lys
NM_005554.4:c.1414G>A MANE Select NP_005545.1:p.Glu472Lys
Search 100 bp 5'
Search 100 bp 3'