Canonical Allele Identifier: CA387792400
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055148T>A , CM000675.2:g.33055148T>A GRCh38
NC_000013.10:g.33629285T>A , CM000675.1:g.33629285T>A GRCh37
NC_000013.9:g.32527285T>A NCBI36
NG_011485.1:g.43715T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1432T>A MANE Select ENSP00000369442.3:p.Tyr478Asn
ENST00000380099.3:c.1432T>A ENSP00000369442.3:p.Tyr478Asn
ENST00000487852.1:n.1440T>A
NM_004795.3:c.1432T>A NP_004786.2:p.Tyr478Asn
XM_006719895.1:c.511T>A XP_006719958.1:p.Tyr171Asn
XM_006719895.2:c.511T>A XP_006719958.1:p.Tyr171Asn
NM_004795.4:c.1432T>A MANE Select NP_004786.2:p.Tyr478Asn