Canonical Allele Identifier: CA387792430
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055156C>A , CM000675.2:g.33055156C>A GRCh38
NC_000013.10:g.33629293C>A , CM000675.1:g.33629293C>A GRCh37
NC_000013.9:g.32527293C>A NCBI36
NG_011485.1:g.43723C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1440C>A MANE Select ENSP00000369442.3:p.Asp480Glu
ENST00000380099.3:c.1440C>A ENSP00000369442.3:p.Asp480Glu
ENST00000487852.1:n.1448C>A
NM_004795.3:c.1440C>A NP_004786.2:p.Asp480Glu
XM_006719895.1:c.519C>A XP_006719958.1:p.Asp173Glu
XM_006719895.2:c.519C>A XP_006719958.1:p.Asp173Glu
NM_004795.4:c.1440C>A MANE Select NP_004786.2:p.Asp480Glu