Canonical Allele Identifier: CA6581777

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 2410183
• ClinVar RCV Id: RCV002789703
• dbSNP Id: rs764320645
• ExAC: 12:52881689 C / T
• gnomAD v2: 12-52881689-C-T
• gnomAD v3: 12-52487905-C-T
• gnomAD v4: 12-52487905-C-T
• MyVariant Identifiers: chr12:g.52881689C>T (hg19) ; chr12:g.52487905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52487905C>T , CM000674.2:g.52487905C>T	GRCh38
NC_000012.11:g.52881689C>T , CM000674.1:g.52881689C>T	GRCh37
NC_000012.10:g.51167956C>T	NCBI36
NG_008298.1:g.10493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1510G>A MANE Select	ENSP00000369317.3:p.Gly504Ser
ENST00000330722.6:c.1510G>A	ENSP00000369317.3:p.Gly504Ser
NM_005554.3:c.1510G>A	NP_005545.1:p.Gly504Ser
NM_005554.4:c.1510G>A MANE Select	NP_005545.1:p.Gly504Ser