Canonical Allele Identifier: CA479853027
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52881887C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488103C>T , CM000674.2:g.52488103C>T GRCh38
NC_000012.11:g.52881887C>T , CM000674.1:g.52881887C>T GRCh37
NC_000012.10:g.51168154C>T NCBI36
NG_008298.1:g.10295G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1425G>A MANE Select ENSP00000369317.3:p.Arg475=
ENST00000330722.6:c.1425G>A ENSP00000369317.3:p.Arg475=
NM_005554.3:c.1425G>A NP_005545.1:p.Arg475=
NM_005554.4:c.1425G>A MANE Select NP_005545.1:p.Arg475=