Canonical Allele Identifier: CA1452131129
Gene: KLB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446974G= , CM000666.2:g.39446974G= GRCh38
NC_000004.11:g.39448594G= , CM000666.1:g.39448594G= GRCh37
NC_000004.10:g.39124989G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2248G= MANE Select ENSP00000257408.4:p.Ala750=
ENST00000257408.4:c.2248G= ENSP00000257408.4:p.Ala750=
NM_175737.3:c.2248G= NP_783864.1:p.Ala750=
XM_005262644.1:c.2221G= XP_005262701.1:p.Ala741=
NM_175737.4:c.2248G= MANE Select NP_783864.1:p.Ala750=
Search 100 bp 5'
Search 100 bp 3'