Canonical Allele Identifier: CA217335
Gene: KRT6A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66572
ClinVar RCV Id: RCV000056992
dbSNP Id: rs267607463

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488359A>G , CM000674.2:g.52488359A>G GRCh38
NC_000012.11:g.52882143A>G , CM000674.1:g.52882143A>G GRCh37
NC_000012.10:g.51168410A>G NCBI36
NG_008298.1:g.10039T>C

Transcript Alleles

HGVS Amino-acid change
NM_005554.3:c.1393T>C VV NP_005545.1:p.Tyr465His
NM_005554.4:c.1393T>C VV MANE Preferred
ENST00000330722.6:c.1393T>C ENSP00000369317.3:p.Tyr465His