Canonical Allele Identifier: CA170745

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 66576
• ClinVar RCV Id: RCV000056996 ; RCV000144075
• dbSNP Id: rs57052654
• MyVariant Identifiers: chr12:g.52882130A>G (hg19) ; chr12:g.52488346A>G (hg38)
• PubMed: PMID:16250206

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1406T>C MANE Select	ENSP00000369317.3:p.Leu469Pro
ENST00000330722.6:c.1406T>C	ENSP00000369317.3:p.Leu469Pro
NM_005554.3:c.1406T>C	NP_005545.1:p.Leu469Pro
NM_005554.4:c.1406T>C MANE Select	NP_005545.1:p.Leu469Pro