Canonical Allele Identifier: CA6581893

Gene: KRT6A

Linked Data

• dbSNP Id: rs768169678
• ExAC: 12:52882250 C / A
• gnomAD v2: 12-52882250-C-A
• gnomAD v3: 12-52488466-C-A
• gnomAD v4: 12-52488466-C-A
• COSMIC: COSM3462295
• MyVariant Identifiers: chr12:g.52882250C>A (hg19) ; chr12:g.52488466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488466C>A , CM000674.2:g.52488466C>A	GRCh38
NC_000012.11:g.52882250C>A , CM000674.1:g.52882250C>A	GRCh37
NC_000012.10:g.51168517C>A	NCBI36
NG_008298.1:g.9932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1286G>T MANE Select	ENSP00000369317.3:p.Gly429Val
ENST00000330722.6:c.1286G>T	ENSP00000369317.3:p.Gly429Val
NM_005554.3:c.1286G>T	NP_005545.1:p.Gly429Val
NM_005554.4:c.1286G>T MANE Select	NP_005545.1:p.Gly429Val