Canonical Allele Identifier: CA6581817

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 2919175
• ClinVar RCV Id: RCV003739277
• dbSNP Id: rs375967909
• ExAC: 12:52881849 T / A
• gnomAD v2: 12-52881849-T-A
• gnomAD v3: 12-52488065-T-A
• gnomAD v4: 12-52488065-T-A
• MyVariant Identifiers: chr12:g.52881849T>A (hg19) ; chr12:g.52488065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488065T>A , CM000674.2:g.52488065T>A	GRCh38
NC_000012.11:g.52881849T>A , CM000674.1:g.52881849T>A	GRCh37
NC_000012.10:g.51168116T>A	NCBI36
NG_008298.1:g.10333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1459+4A>T MANE Select	ENSP00000369317.3:n.1459+4A>T
ENST00000330722.6:c.1459+4A>T	ENSP00000369317.3:n.1459+4A>T
NM_005554.3:c.1459+4A>T	NP_005545.1:n.1459+4A>T
NM_005554.4:c.1459+4A>T MANE Select	NP_005545.1:n.1459+4A>T