Canonical Allele Identifier: CA387792769
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055264A>T , CM000675.2:g.33055264A>T GRCh38
NC_000013.10:g.33629401A>T , CM000675.1:g.33629401A>T GRCh37
NC_000013.9:g.32527401A>T NCBI36
NG_011485.1:g.43831A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.1548A>T MANE Select ENSP00000369442.3:p.Glu516Asp
ENST00000380099.3:c.1548A>T ENSP00000369442.3:p.Glu516Asp
ENST00000487852.1:n.1556A>T
NM_004795.3:c.1548A>T NP_004786.2:p.Glu516Asp
XM_006719895.1:c.627A>T XP_006719958.1:p.Glu209Asp
XM_006719895.2:c.627A>T XP_006719958.1:p.Glu209Asp
NM_004795.4:c.1548A>T MANE Select NP_004786.2:p.Glu516Asp