Canonical Allele Identifier: CA384952755
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487877C>A , CM000674.2:g.52487877C>A GRCh38
NC_000012.11:g.52881661C>A , CM000674.1:g.52881661C>A GRCh37
NC_000012.10:g.51167928C>A NCBI36
NG_008298.1:g.10521G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1538G>T MANE Select ENSP00000369317.3:p.Ser513Ile
ENST00000330722.6:c.1538G>T ENSP00000369317.3:p.Ser513Ile
NM_005554.3:c.1538G>T NP_005545.1:p.Ser513Ile
NM_005554.4:c.1538G>T MANE Select NP_005545.1:p.Ser513Ile