Canonical Allele Identifier: CA217356
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66589
dbSNP Id: rs59685571

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492676G>T , CM000674.2:g.52492676G>T GRCh38
NC_000012.11:g.52886460G>T , CM000674.1:g.52886460G>T GRCh37
NC_000012.10:g.51172727G>T NCBI36
NG_008298.1:g.5722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.513C>A MANE Select ENSP00000369317.3:p.Asn171Lys
ENST00000330722.6:c.513C>A ENSP00000369317.3:p.Asn171Lys
ENST00000549898.5:n.34C>A
NM_005554.3:c.513C>A NP_005545.1:p.Asn171Lys
NM_005554.4:c.513C>A MANE Select NP_005545.1:p.Asn171Lys