Canonical Allele Identifier: CA124169

Gene: KRT6A

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

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