Canonical Allele Identifier: CA6581823

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 1012820
• ClinVar RCV Id: RCV001310992 ; RCV003938617
• dbSNP Id: rs372218481
• ExAC: 12:52881863 T / C
• gnomAD v2: 12-52881863-T-C
• gnomAD v3: 12-52488079-T-C
• gnomAD v4: 12-52488079-T-C
• MyVariant Identifiers: chr12:g.52881863T>C (hg19) ; chr12:g.52488079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488079T>C , CM000674.2:g.52488079T>C	GRCh38
NC_000012.11:g.52881863T>C , CM000674.1:g.52881863T>C	GRCh37
NC_000012.10:g.51168130T>C	NCBI36
NG_008298.1:g.10319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1449A>G MANE Select	ENSP00000369317.3:p.Gln483=
ENST00000330722.6:c.1449A>G	ENSP00000369317.3:p.Gln483=
NM_005554.3:c.1449A>G	NP_005545.1:p.Gln483=
NM_005554.4:c.1449A>G MANE Select	NP_005545.1:p.Gln483=