Canonical Allele Identifier: CA356657330
Gene: KLB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446822A>T , CM000666.2:g.39446822A>T GRCh38
NC_000004.11:g.39448442A>T , CM000666.1:g.39448442A>T GRCh37
NC_000004.10:g.39124837A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2096A>T MANE Select ENSP00000257408.4:p.Asp699Val
ENST00000257408.4:c.2096A>T ENSP00000257408.4:p.Asp699Val
NM_175737.3:c.2096A>T NP_783864.1:p.Asp699Val
XM_005262644.1:c.2069A>T XP_005262701.1:p.Asp690Val
NM_175737.4:c.2096A>T MANE Select NP_783864.1:p.Asp699Val