Canonical Allele Identifier: CA387790803
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053998G>A , CM000675.2:g.33053998G>A GRCh38
NC_000013.10:g.33628135G>A , CM000675.1:g.33628135G>A GRCh37
NC_000013.9:g.32526135G>A NCBI36
NG_011485.1:g.42565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1051G>A MANE Select ENSP00000369442.3:p.Asp351Asn
ENST00000380099.3:c.1051G>A ENSP00000369442.3:p.Asp351Asn
ENST00000487852.1:n.1059G>A
NM_004795.3:c.1051G>A NP_004786.2:p.Asp351Asn
XM_006719895.1:c.130G>A XP_006719958.1:p.Asp44Asn
XM_006719895.2:c.130G>A XP_006719958.1:p.Asp44Asn
NM_004795.4:c.1051G>A MANE Select NP_004786.2:p.Asp351Asn