Canonical Allele Identifier: CA384963162

Gene: KRT6A

Linked Data

• MyVariant Identifiers: chr12:g.52886436G>T (hg19) ; chr12:g.52492652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52492652G>T , CM000674.2:g.52492652G>T	GRCh38
NC_000012.11:g.52886436G>T , CM000674.1:g.52886436G>T	GRCh37
NC_000012.10:g.51172703G>T	NCBI36
NG_008298.1:g.5746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.537C>A MANE Select	ENSP00000369317.3:p.Asp179Glu
ENST00000330722.6:c.537C>A	ENSP00000369317.3:p.Asp179Glu
ENST00000549898.5:n.58C>A
NM_005554.3:c.537C>A	NP_005545.1:p.Asp179Glu
NM_005554.4:c.537C>A MANE Select	NP_005545.1:p.Asp179Glu