Canonical Allele Identifier: CA387792464
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055170A>C , CM000675.2:g.33055170A>C GRCh38
NC_000013.10:g.33629307A>C , CM000675.1:g.33629307A>C GRCh37
NC_000013.9:g.32527307A>C NCBI36
NG_011485.1:g.43737A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1454A>C MANE Select ENSP00000369442.3:p.Asp485Ala
ENST00000380099.3:c.1454A>C ENSP00000369442.3:p.Asp485Ala
ENST00000487852.1:n.1462A>C
NM_004795.3:c.1454A>C NP_004786.2:p.Asp485Ala
XM_006719895.1:c.533A>C XP_006719958.1:p.Asp178Ala
XM_006719895.2:c.533A>C XP_006719958.1:p.Asp178Ala
NM_004795.4:c.1454A>C MANE Select NP_004786.2:p.Asp485Ala