Canonical Allele Identifier: CA480069866
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs751275315
MyVariant Identifiers: chr12:g.52886496C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492712C>T , CM000674.2:g.52492712C>T GRCh38
NC_000012.11:g.52886496C>T , CM000674.1:g.52886496C>T GRCh37
NC_000012.10:g.51172763C>T NCBI36
NG_008298.1:g.5686G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.477G>A MANE Select ENSP00000369317.3:p.Val159=
ENST00000330722.6:c.477G>A ENSP00000369317.3:p.Val159=
NM_005554.3:c.477G>A NP_005545.1:p.Val159=
NM_005554.4:c.477G>A MANE Select NP_005545.1:p.Val159=