Canonical Allele Identifier: CA1452131102

Gene: KLB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446925A= , CM000666.2:g.39446925A=	GRCh38
NC_000004.11:g.39448545A= , CM000666.1:g.39448545A=	GRCh37
NC_000004.10:g.39124940A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2199A= MANE Select	ENSP00000257408.4:p.Ser733=
ENST00000257408.4:c.2199A=	ENSP00000257408.4:p.Ser733=
NM_175737.3:c.2199A=	NP_783864.1:p.Ser733=
XM_005262644.1:c.2172A=	XP_005262701.1:p.Ser724=
NM_175737.4:c.2199A= MANE Select	NP_783864.1:p.Ser733=