Canonical Allele Identifier: CA356657528
Gene: KLB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446918G>A , CM000666.2:g.39446918G>A GRCh38
NC_000004.11:g.39448538G>A , CM000666.1:g.39448538G>A GRCh37
NC_000004.10:g.39124933G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2192G>A MANE Select ENSP00000257408.4:p.Arg731Lys
ENST00000257408.4:c.2192G>A ENSP00000257408.4:p.Arg731Lys
NM_175737.3:c.2192G>A NP_783864.1:p.Arg731Lys
XM_005262644.1:c.2165G>A XP_005262701.1:p.Arg722Lys
NM_175737.4:c.2192G>A MANE Select NP_783864.1:p.Arg731Lys