Canonical Allele Identifier: CA384952749

Gene: KRT6A

Linked Data

• MyVariant Identifiers: chr12:g.52881659T>G (hg19) ; chr12:g.52487875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52487875T>G , CM000674.2:g.52487875T>G	GRCh38
NC_000012.11:g.52881659T>G , CM000674.1:g.52881659T>G	GRCh37
NC_000012.10:g.51167926T>G	NCBI36
NG_008298.1:g.10523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1540A>C MANE Select	ENSP00000369317.3:p.Ser514Arg
ENST00000330722.6:c.1540A>C	ENSP00000369317.3:p.Ser514Arg
NM_005554.3:c.1540A>C	NP_005545.1:p.Ser514Arg
NM_005554.4:c.1540A>C MANE Select	NP_005545.1:p.Ser514Arg