Canonical Allele Identifier: CA2532256573
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488243G>T , CM000674.2:g.52488243G>T GRCh38
NC_000012.11:g.52882027G>T , CM000674.1:g.52882027G>T GRCh37
NC_000012.10:g.51168294G>T NCBI36
NG_008298.1:g.10155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1424+85C>A MANE Select ENSP00000369317.3:n.1424+85C>A
ENST00000330722.6:c.1424+85C>A ENSP00000369317.3:n.1424+85C>A
NM_005554.3:c.1424+85C>A NP_005545.1:n.1424+85C>A
NM_005554.4:c.1424+85C>A MANE Select NP_005545.1:n.1424+85C>A