Canonical Allele Identifier: CA1452131054
Gene: KLB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446821G= , CM000666.2:g.39446821G= GRCh38
NC_000004.11:g.39448441G= , CM000666.1:g.39448441G= GRCh37
NC_000004.10:g.39124836G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2095G= MANE Select ENSP00000257408.4:p.Asp699=
ENST00000257408.4:c.2095G= ENSP00000257408.4:p.Asp699=
NM_175737.3:c.2095G= NP_783864.1:p.Asp699=
XM_005262644.1:c.2068G= XP_005262701.1:p.Asp690=
NM_175737.4:c.2095G= MANE Select NP_783864.1:p.Asp699=