Canonical Allele Identifier: CA384954502
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488497C>T , CM000674.2:g.52488497C>T GRCh38
NC_000012.11:g.52882281C>T , CM000674.1:g.52882281C>T GRCh37
NC_000012.10:g.51168548C>T NCBI36
NG_008298.1:g.9901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1255G>A MANE Select ENSP00000369317.3:p.Ala419Thr
ENST00000330722.6:c.1255G>A ENSP00000369317.3:p.Ala419Thr
NM_005554.3:c.1255G>A NP_005545.1:p.Ala419Thr
NM_005554.4:c.1255G>A MANE Select NP_005545.1:p.Ala419Thr