Canonical Allele Identifier: CA2575165192
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488240C>A , CM000674.2:g.52488240C>A GRCh38
NC_000012.11:g.52882024C>A , CM000674.1:g.52882024C>A GRCh37
NC_000012.10:g.51168291C>A NCBI36
NG_008298.1:g.10158G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1424+88G>T MANE Select ENSP00000369317.3:n.1424+88G>T
ENST00000330722.6:c.1424+88G>T ENSP00000369317.3:n.1424+88G>T
NM_005554.3:c.1424+88G>T NP_005545.1:n.1424+88G>T
NM_005554.4:c.1424+88G>T MANE Select NP_005545.1:n.1424+88G>T