Canonical Allele Identifier: CA384954115

Gene: KRT6A

Linked Data

• dbSNP Id: rs1471626584
• gnomAD v2: 12-52882226-G-T
• gnomAD v4: 12-52488442-G-T
• MyVariant Identifiers: chr12:g.52882226G>T (hg19) ; chr12:g.52488442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488442G>T , CM000674.2:g.52488442G>T	GRCh38
NC_000012.11:g.52882226G>T , CM000674.1:g.52882226G>T	GRCh37
NC_000012.10:g.51168493G>T	NCBI36
NG_008298.1:g.9956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1310C>A MANE Select	ENSP00000369317.3:p.Ala437Asp
ENST00000330722.6:c.1310C>A	ENSP00000369317.3:p.Ala437Asp
NM_005554.3:c.1310C>A	NP_005545.1:p.Ala437Asp
NM_005554.4:c.1310C>A MANE Select	NP_005545.1:p.Ala437Asp