Canonical Allele Identifier: CA6581917

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 2882942
• ClinVar RCV Id: RCV003721775
• dbSNP Id: rs372637888
• ExAC: 12:52882329 C / T
• gnomAD v2: 12-52882329-C-T
• gnomAD v3: 12-52488545-C-T
• gnomAD v4: 12-52488545-C-T
• MyVariant Identifiers: chr12:g.52882329C>T (hg19) ; chr12:g.52488545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488545C>T , CM000674.2:g.52488545C>T	GRCh38
NC_000012.11:g.52882329C>T , CM000674.1:g.52882329C>T	GRCh37
NC_000012.10:g.51168596C>T	NCBI36
NG_008298.1:g.9853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1207G>A MANE Select	ENSP00000369317.3:p.Ala403Thr
ENST00000330722.6:c.1207G>A	ENSP00000369317.3:p.Ala403Thr
NM_005554.3:c.1207G>A	NP_005545.1:p.Ala403Thr
NM_005554.4:c.1207G>A MANE Select	NP_005545.1:p.Ala403Thr