Canonical Allele Identifier: CA124170

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 14637
• ClinVar RCV Id: RCV000015743 ; RCV000056997
• dbSNP Id: rs57052654
• MyVariant Identifiers: chr12:g.52882130A>C (hg19) ; chr12:g.52488346A>C (hg38)
• PubMed: PMID:11886499

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488346A>C , CM000674.2:g.52488346A>C	GRCh38
NC_000012.11:g.52882130A>C , CM000674.1:g.52882130A>C	GRCh37
NC_000012.10:g.51168397A>C	NCBI36
NG_008298.1:g.10052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1406T>G MANE Select	ENSP00000369317.3:p.Leu469Arg
ENST00000330722.6:c.1406T>G	ENSP00000369317.3:p.Leu469Arg
NM_005554.3:c.1406T>G	NP_005545.1:p.Leu469Arg
NM_005554.4:c.1406T>G MANE Select	NP_005545.1:p.Leu469Arg