Canonical Allele Identifier: CA6581861

Gene: KRT6A

Linked Data

• dbSNP Id: rs1132960
• ExAC: 12:52882123 A / G
• gnomAD v2: 12-52882123-A-G
• gnomAD v3: 12-52488339-A-G
• gnomAD v4: 12-52488339-A-G
• COSMIC: COSM3792728
• MyVariant Identifiers: chr12:g.52882123A>G (hg19) ; chr12:g.52488339A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488339A>G , CM000674.2:g.52488339A>G	GRCh38
NC_000012.11:g.52882123A>G , CM000674.1:g.52882123A>G	GRCh37
NC_000012.10:g.51168390A>G	NCBI36
NG_008298.1:g.10059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1413T>C MANE Select	ENSP00000369317.3:p.Gly471=
ENST00000330722.6:c.1413T>C	ENSP00000369317.3:p.Gly471=
NM_005554.3:c.1413T>C	NP_005545.1:p.Gly471=
NM_005554.4:c.1413T>C MANE Select	NP_005545.1:p.Gly471=