Canonical Allele Identifier: CA1452131119
Gene: KLB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446957C= , CM000666.2:g.39446957C= GRCh38
NC_000004.11:g.39448577C= , CM000666.1:g.39448577C= GRCh37
NC_000004.10:g.39124972C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2231C= MANE Select ENSP00000257408.4:p.Ala744=
ENST00000257408.4:c.2231C= ENSP00000257408.4:p.Ala744=
NM_175737.3:c.2231C= NP_783864.1:p.Ala744=
XM_005262644.1:c.2204C= XP_005262701.1:p.Ala735=
NM_175737.4:c.2231C= MANE Select NP_783864.1:p.Ala744=
Search 100 bp 5'
Search 100 bp 3'