Canonical Allele Identifier: CA387790587
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053912T>A , CM000675.2:g.33053912T>A GRCh38
NC_000013.10:g.33628049T>A , CM000675.1:g.33628049T>A GRCh37
NC_000013.9:g.32526049T>A NCBI36
NG_011485.1:g.42479T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.965T>A MANE Select ENSP00000369442.3:p.Phe322Tyr
ENST00000380099.3:c.965T>A ENSP00000369442.3:p.Phe322Tyr
ENST00000487852.1:n.973T>A
NM_004795.3:c.965T>A NP_004786.2:p.Phe322Tyr
XM_006719895.1:c.44T>A XP_006719958.1:p.Phe15Tyr
XM_006719895.2:c.44T>A XP_006719958.1:p.Phe15Tyr
NM_004795.4:c.965T>A MANE Select NP_004786.2:p.Phe322Tyr