Canonical Allele Identifier: CA387792764
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055263A>G , CM000675.2:g.33055263A>G GRCh38
NC_000013.10:g.33629400A>G , CM000675.1:g.33629400A>G GRCh37
NC_000013.9:g.32527400A>G NCBI36
NG_011485.1:g.43830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1547A>G MANE Select ENSP00000369442.3:p.Glu516Gly
ENST00000380099.3:c.1547A>G ENSP00000369442.3:p.Glu516Gly
ENST00000487852.1:n.1555A>G
NM_004795.3:c.1547A>G NP_004786.2:p.Glu516Gly
XM_006719895.1:c.626A>G XP_006719958.1:p.Glu209Gly
XM_006719895.2:c.626A>G XP_006719958.1:p.Glu209Gly
NM_004795.4:c.1547A>G MANE Select NP_004786.2:p.Glu516Gly