Canonical Allele Identifier: CA6582242

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 1291208
• ClinVar RCV Id: RCV001716793 ; RCV003976072
• dbSNP Id: rs72482244
• ExAC: 12:52886424 C / T
• gnomAD v2: 12-52886424-C-T
• gnomAD v3: 12-52492640-C-T
• gnomAD v4: 12-52492640-C-T
• MyVariant Identifiers: chr12:g.52886424C>T (hg19) ; chr12:g.52492640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52492640C>T , CM000674.2:g.52492640C>T	GRCh38
NC_000012.11:g.52886424C>T , CM000674.1:g.52886424C>T	GRCh37
NC_000012.10:g.51172691C>T	NCBI36
NG_008298.1:g.5758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.540+9G>A MANE Select	ENSP00000369317.3:n.540+9G>A
ENST00000330722.6:c.540+9G>A	ENSP00000369317.3:n.540+9G>A
ENST00000549898.5:n.61+9G>A
NM_005554.3:c.540+9G>A	NP_005545.1:n.540+9G>A
NM_005554.4:c.540+9G>A MANE Select	NP_005545.1:n.540+9G>A