Canonical Allele Identifier: CA387790619
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053923T>A , CM000675.2:g.33053923T>A GRCh38
NC_000013.10:g.33628060T>A , CM000675.1:g.33628060T>A GRCh37
NC_000013.9:g.32526060T>A NCBI36
NG_011485.1:g.42490T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.976T>A MANE Select ENSP00000369442.3:p.Trp326Arg
ENST00000380099.3:c.976T>A ENSP00000369442.3:p.Trp326Arg
ENST00000487852.1:n.984T>A
NM_004795.3:c.976T>A NP_004786.2:p.Trp326Arg
XM_006719895.1:c.55T>A XP_006719958.1:p.Trp19Arg
XM_006719895.2:c.55T>A XP_006719958.1:p.Trp19Arg
NM_004795.4:c.976T>A MANE Select NP_004786.2:p.Trp326Arg