Canonical Allele Identifier: CA387792736
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055256C>A , CM000675.2:g.33055256C>A GRCh38
NC_000013.10:g.33629393C>A , CM000675.1:g.33629393C>A GRCh37
NC_000013.9:g.32527393C>A NCBI36
NG_011485.1:g.43823C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.1540C>A MANE Select ENSP00000369442.3:p.Pro514Thr
ENST00000380099.3:c.1540C>A ENSP00000369442.3:p.Pro514Thr
ENST00000487852.1:n.1548C>A
NM_004795.3:c.1540C>A NP_004786.2:p.Pro514Thr
XM_006719895.1:c.619C>A XP_006719958.1:p.Pro207Thr
XM_006719895.2:c.619C>A XP_006719958.1:p.Pro207Thr
NM_004795.4:c.1540C>A MANE Select NP_004786.2:p.Pro514Thr