Canonical Allele Identifier: CA1452131140

Gene: KLB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446987C= , CM000666.2:g.39446987C=	GRCh38
NC_000004.11:g.39448607C= , CM000666.1:g.39448607C=	GRCh37
NC_000004.10:g.39125002C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2261C= MANE Select	ENSP00000257408.4:p.Ala754=
ENST00000257408.4:c.2261C=	ENSP00000257408.4:p.Ala754=
NM_175737.3:c.2261C=	NP_783864.1:p.Ala754=
XM_005262644.1:c.2234C=	XP_005262701.1:p.Ala745=
NM_175737.4:c.2261C= MANE Select	NP_783864.1:p.Ala754=