Canonical Allele Identifier: CA5242495

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126695910G>A , CM000671.2:g.126695910G>A	GRCh38
NC_000009.11:g.129458189G>A , CM000671.1:g.129458189G>A	GRCh37
NC_000009.10:g.128498010G>A	NCBI36
NG_017039.1:g.86468G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.958G>A MANE Select	NP_001167618.1:p.Val320Met
ENST00000373474.9:c.958G>A MANE Select	ENSP00000362573.3:p.Val320Met
NM_001174146.1:c.991G>A	NP_001167617.1:p.Val331Met
NM_001174146.2:c.991G>A	NP_001167617.1:p.Val331Met
NM_001174147.1:c.958G>A	NP_001167618.1:p.Val320Met
NM_002316.3:c.958G>A	NP_002307.2:p.Val320Met
NM_002316.4:c.958G>A	NP_002307.2:p.Val320Met
ENST00000355497.10:c.991G>A	ENSP00000347684.5:p.Val331Met
ENST00000355497.9:c.991G>A	ENSP00000347684.5:p.Val331Met
ENST00000373474.8:c.958G>A	ENSP00000362573.3:p.Val320Met
ENST00000526117.5:c.958G>A	ENSP00000436930.1:p.Val320Met
ENST00000526117.6:c.958G>A	ENSP00000436930.1:p.Val320Met
ENST00000561065.1:c.922G>A	ENSP00000453580.1:p.Val308Met