Canonical Allele Identifier: CA5242324

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126691017G>A , CM000671.2:g.126691017G>A	GRCh38
NC_000009.11:g.129453296G>A , CM000671.1:g.129453296G>A	GRCh37
NC_000009.10:g.128493117G>A	NCBI36
NG_017039.1:g.81575G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.508G>A MANE Select	NP_001167618.1:p.Glu170Lys
ENST00000373474.9:c.508G>A MANE Select	ENSP00000362573.3:p.Glu170Lys
NM_001174146.1:c.508G>A	NP_001167617.1:p.Glu170Lys
NM_001174146.2:c.508G>A	NP_001167617.1:p.Glu170Lys
NM_001174147.1:c.508G>A	NP_001167618.1:p.Glu170Lys
NM_002316.3:c.508G>A	NP_002307.2:p.Glu170Lys
NM_002316.4:c.508G>A	NP_002307.2:p.Glu170Lys
ENST00000355497.10:c.508G>A	ENSP00000347684.5:p.Glu170Lys
ENST00000355497.9:c.508G>A	ENSP00000347684.5:p.Glu170Lys
ENST00000373474.8:c.508G>A	ENSP00000362573.3:p.Glu170Lys
ENST00000526117.5:c.508G>A	ENSP00000436930.1:p.Glu170Lys
ENST00000526117.6:c.508G>A	ENSP00000436930.1:p.Glu170Lys
ENST00000561065.1:c.439G>A	ENSP00000453580.1:p.Glu147Lys