Canonical Allele Identifier: CA384953057
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487953C>A , CM000674.2:g.52487953C>A GRCh38
NC_000012.11:g.52881737C>A , CM000674.1:g.52881737C>A GRCh37
NC_000012.10:g.51168004C>A NCBI36
NG_008298.1:g.10445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1462G>T MANE Select ENSP00000369317.3:p.Val488Leu
ENST00000330722.6:c.1462G>T ENSP00000369317.3:p.Val488Leu
NM_005554.3:c.1462G>T NP_005545.1:p.Val488Leu
NM_005554.4:c.1462G>T MANE Select NP_005545.1:p.Val488Leu