Canonical Allele Identifier: CA387792360
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055139G>A , CM000675.2:g.33055139G>A GRCh38
NC_000013.10:g.33629276G>A , CM000675.1:g.33629276G>A GRCh37
NC_000013.9:g.32527276G>A NCBI36
NG_011485.1:g.43706G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1423G>A MANE Select ENSP00000369442.3:p.Gly475Arg
ENST00000380099.3:c.1423G>A ENSP00000369442.3:p.Gly475Arg
ENST00000487852.1:n.1431G>A
NM_004795.3:c.1423G>A NP_004786.2:p.Gly475Arg
XM_006719895.1:c.502G>A XP_006719958.1:p.Gly168Arg
XM_006719895.2:c.502G>A XP_006719958.1:p.Gly168Arg
NM_004795.4:c.1423G>A MANE Select NP_004786.2:p.Gly475Arg