Canonical Allele Identifier: CA384954227

Gene: KRT6A

Linked Data

• dbSNP Id: rs1203132497
• gnomAD v3: 12-52488458-C-T
• gnomAD v4: 12-52488458-C-T
• MyVariant Identifiers: chr12:g.52882242C>T (hg19) ; chr12:g.52488458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488458C>T , CM000674.2:g.52488458C>T	GRCh38
NC_000012.11:g.52882242C>T , CM000674.1:g.52882242C>T	GRCh37
NC_000012.10:g.51168509C>T	NCBI36
NG_008298.1:g.9940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1294G>A MANE Select	ENSP00000369317.3:p.Asp432Asn
ENST00000330722.6:c.1294G>A	ENSP00000369317.3:p.Asp432Asn
NM_005554.3:c.1294G>A	NP_005545.1:p.Asp432Asn
NM_005554.4:c.1294G>A MANE Select	NP_005545.1:p.Asp432Asn