Canonical Allele Identifier: CA384952727
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1429207592

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487868G>A , CM000674.2:g.52487868G>A GRCh38
NC_000012.11:g.52881652G>A , CM000674.1:g.52881652G>A GRCh37
NC_000012.10:g.51167919G>A NCBI36
NG_008298.1:g.10530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1547C>T MANE Select ENSP00000369317.3:p.Ser516Phe
ENST00000330722.6:c.1547C>T ENSP00000369317.3:p.Ser516Phe
NM_005554.3:c.1547C>T NP_005545.1:p.Ser516Phe
NM_005554.4:c.1547C>T MANE Select NP_005545.1:p.Ser516Phe