Canonical Allele Identifier: CA217338
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66574
ClinVar RCV Id: RCV000056994
dbSNP Id: rs59018888
MyVariant Identifiers: chr12:g.52882133A>T (hg19) chr12:g.52488349A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488349A>T , CM000674.2:g.52488349A>T GRCh38
NC_000012.11:g.52882133A>T , CM000674.1:g.52882133A>T GRCh37
NC_000012.10:g.51168400A>T NCBI36
NG_008298.1:g.10049T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1403T>A MANE Select ENSP00000369317.3:p.Leu468Gln
ENST00000330722.6:c.1403T>A ENSP00000369317.3:p.Leu468Gln
NM_005554.3:c.1403T>A NP_005545.1:p.Leu468Gln
NM_005554.4:c.1403T>A MANE Select NP_005545.1:p.Leu468Gln
Search 100 bp 5'
Search 100 bp 3'