Canonical Allele Identifier: CA356657319
Gene: KLB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446818A>G , CM000666.2:g.39446818A>G GRCh38
NC_000004.11:g.39448438A>G , CM000666.1:g.39448438A>G GRCh37
NC_000004.10:g.39124833A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2092A>G MANE Select ENSP00000257408.4:p.Ser698Gly
ENST00000257408.4:c.2092A>G ENSP00000257408.4:p.Ser698Gly
NM_175737.3:c.2092A>G NP_783864.1:p.Ser698Gly
XM_005262644.1:c.2065A>G XP_005262701.1:p.Ser689Gly
NM_175737.4:c.2092A>G MANE Select NP_783864.1:p.Ser698Gly