Canonical Allele Identifier: CA374915979

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126696294G>A , CM000671.2:g.126696294G>A	GRCh38
NC_000009.11:g.129458573G>A , CM000671.1:g.129458573G>A	GRCh37
NC_000009.10:g.128498394G>A	NCBI36
NG_017039.1:g.86852G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.1052G>A MANE Select	NP_001167618.1:p.Gly351Glu
ENST00000373474.9:c.1052G>A MANE Select	ENSP00000362573.3:p.Gly351Glu
NM_001174146.1:c.1064G>A	NP_001167617.1:p.Gly355Glu
NM_001174146.2:c.1064G>A	NP_001167617.1:p.Gly355Glu
NM_001174147.1:c.1052G>A	NP_001167618.1:p.Gly351Glu
NM_002316.3:c.1031G>A	NP_002307.2:p.Gly344Glu
NM_002316.4:c.1031G>A	NP_002307.2:p.Gly344Glu
ENST00000355497.10:c.1064G>A	ENSP00000347684.5:p.Gly355Glu
ENST00000355497.9:c.1064G>A	ENSP00000347684.5:p.Gly355Glu
ENST00000373474.8:c.1052G>A	ENSP00000362573.3:p.Gly351Glu
ENST00000526117.5:c.1031G>A	ENSP00000436930.1:p.Gly344Glu
ENST00000526117.6:c.1031G>A	ENSP00000436930.1:p.Gly344Glu
ENST00000561065.1:c.995G>A	ENSP00000453580.1:p.Gly332Glu