Canonical Allele Identifier: CA124168

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 14635
• ClinVar RCV Id: RCV000015741 ; RCV000057013
• dbSNP Id: rs28933087
• gnomAD v4: 12-52492669-A-C
• MyVariant Identifiers: chr12:g.52886453A>C (hg19) ; chr12:g.52492669A>C (hg38)
• PubMed: PMID:11886499

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52492669A>C , CM000674.2:g.52492669A>C	GRCh38
NC_000012.11:g.52886453A>C , CM000674.1:g.52886453A>C	GRCh37
NC_000012.10:g.51172720A>C	NCBI36
NG_008298.1:g.5729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.520T>G MANE Select	ENSP00000369317.3:p.Phe174Val
ENST00000330722.6:c.520T>G	ENSP00000369317.3:p.Phe174Val
ENST00000549898.5:n.41T>G
NM_005554.3:c.520T>G	NP_005545.1:p.Phe174Val
NM_005554.4:c.520T>G MANE Select	NP_005545.1:p.Phe174Val