Canonical Allele Identifier: CA479852826
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52881717G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487933G>T , CM000674.2:g.52487933G>T GRCh38
NC_000012.11:g.52881717G>T , CM000674.1:g.52881717G>T GRCh37
NC_000012.10:g.51167984G>T NCBI36
NG_008298.1:g.10465C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1482C>A MANE Select ENSP00000369317.3:p.Ser494=
ENST00000330722.6:c.1482C>A ENSP00000369317.3:p.Ser494=
NM_005554.3:c.1482C>A NP_005545.1:p.Ser494=
NM_005554.4:c.1482C>A MANE Select NP_005545.1:p.Ser494=