Canonical Allele Identifier: CA384953257

Gene: KRT6A

Linked Data

• gnomAD v4: 12-52488332-A-G
• MyVariant Identifiers: chr12:g.52882116A>G (hg19) ; chr12:g.52488332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488332A>G , CM000674.2:g.52488332A>G	GRCh38
NC_000012.11:g.52882116A>G , CM000674.1:g.52882116A>G	GRCh37
NC_000012.10:g.51168383A>G	NCBI36
NG_008298.1:g.10066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1420T>C MANE Select	ENSP00000369317.3:p.Cys474Arg
ENST00000330722.6:c.1420T>C	ENSP00000369317.3:p.Cys474Arg
NM_005554.3:c.1420T>C	NP_005545.1:p.Cys474Arg
NM_005554.4:c.1420T>C MANE Select	NP_005545.1:p.Cys474Arg