Canonical Allele Identifier: CA480068839
Gene: KRT6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52863473G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52469689G>A , CM000674.2:g.52469689G>A GRCh38
NC_000012.11:g.52863473G>A , CM000674.1:g.52863473G>A GRCh37
NC_000012.10:g.51149740G>A NCBI36
NG_012416.1:g.9097C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252250.7:c.1405C>T MANE Select ENSP00000252250.6:p.Leu469=
ENST00000252250.6:c.1405C>T ENSP00000252250.6:p.Leu469=
NM_173086.4:c.1405C>T NP_775109.2:p.Leu469=
NM_173086.5:c.1405C>T MANE Select NP_775109.2:p.Leu469=