Canonical Allele Identifier: CA384952765
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2548036
ClinVar RCV Id: RCV003258080
COSMIC: COSM6137380
MyVariant Identifiers: chr12:g.52881665C>T (hg19) chr12:g.52487881C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487881C>T , CM000674.2:g.52487881C>T GRCh38
NC_000012.11:g.52881665C>T , CM000674.1:g.52881665C>T GRCh37
NC_000012.10:g.51167932C>T NCBI36
NG_008298.1:g.10517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1534G>A MANE Select ENSP00000369317.3:p.Gly512Arg
ENST00000330722.6:c.1534G>A ENSP00000369317.3:p.Gly512Arg
NM_005554.3:c.1534G>A NP_005545.1:p.Gly512Arg
NM_005554.4:c.1534G>A MANE Select NP_005545.1:p.Gly512Arg
Search 100 bp 5'
Search 100 bp 3'