Canonical Allele Identifier: CA5242612

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 364892
• ClinVar RCV Id: RCV000362846 ; RCV001541346
• dbSNP Id: rs10121481
• ExAC: 9:129458781 A / G
• gnomAD v2: 9-129458781-A-G
• gnomAD v3: 9-126696502-A-G
• gnomAD v4: 9-126696502-A-G
• MyVariant Identifiers: chr9:g.129458781A>G (hg19) ; chr9:g.126696502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126696502A>G , CM000671.2:g.126696502A>G	GRCh38
NC_000009.11:g.129458781A>G , CM000671.1:g.129458781A>G	GRCh37
NC_000009.10:g.128498602A>G	NCBI36
NG_017039.1:g.87060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.*51A>G	ENSP00000347684.5:n.*51A>G
ENST00000373474.9:c.*51A>G MANE Select	ENSP00000362573.3:n.*51A>G
ENST00000526117.6:c.*51A>G	ENSP00000436930.1:n.*51A>G
ENST00000355497.9:c.*51A>G	ENSP00000347684.5:n.*51A>G
ENST00000373474.8:c.*51A>G	ENSP00000362573.3:n.*51A>G
ENST00000561065.1:c.*51A>G	ENSP00000453580.1:n.*51A>G
NM_001174146.1:c.*51A>G	NP_001167617.1:n.*51A>G
NM_001174147.1:c.*51A>G	NP_001167618.1:n.*51A>G
NM_002316.3:c.*51A>G	NP_002307.2:n.*51A>G
NM_001174146.2:c.*51A>G	NP_001167617.1:n.*51A>G
NM_001174147.2:c.*51A>G MANE Select	NP_001167618.1:n.*51A>G
NM_002316.4:c.*51A>G	NP_002307.2:n.*51A>G