Canonical Allele Identifier: CA237228749

Gene: KRT6A

Linked Data

• dbSNP Id: rs893204150
• gnomAD v2: 12-52881862-C-T
• gnomAD v4: 12-52488078-C-T
• MyVariant Identifiers: chr12:g.52881862C>T (hg19) ; chr12:g.52488078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488078C>T , CM000674.2:g.52488078C>T	GRCh38
NC_000012.11:g.52881862C>T , CM000674.1:g.52881862C>T	GRCh37
NC_000012.10:g.51168129C>T	NCBI36
NG_008298.1:g.10320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1450G>A MANE Select	ENSP00000369317.3:p.Val484Ile
ENST00000330722.6:c.1450G>A	ENSP00000369317.3:p.Val484Ile
NM_005554.3:c.1450G>A	NP_005545.1:p.Val484Ile
NM_005554.4:c.1450G>A MANE Select	NP_005545.1:p.Val484Ile