Canonical Allele Identifier: CA384952995

Gene: KRT6A

Linked Data

• gnomAD v4: 12-52487938-C-G
• MyVariant Identifiers: chr12:g.52881722C>G (hg19) ; chr12:g.52487938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52487938C>G , CM000674.2:g.52487938C>G	GRCh38
NC_000012.11:g.52881722C>G , CM000674.1:g.52881722C>G	GRCh37
NC_000012.10:g.51167989C>G	NCBI36
NG_008298.1:g.10460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1477G>C MANE Select	ENSP00000369317.3:p.Val493Leu
ENST00000330722.6:c.1477G>C	ENSP00000369317.3:p.Val493Leu
NM_005554.3:c.1477G>C	NP_005545.1:p.Val493Leu
NM_005554.4:c.1477G>C MANE Select	NP_005545.1:p.Val493Leu