Canonical Allele Identifier: CA374909991

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2881766
• ClinVar RCV Id: RCV003708276
• gnomAD v4: 9-126615452-G-A
• MyVariant Identifiers: chr9:g.129377731G>A (hg19) ; chr9:g.126615452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615452G>A , CM000671.2:g.126615452G>A	GRCh38
NC_000009.11:g.129377731G>A , CM000671.1:g.129377731G>A	GRCh37
NC_000009.10:g.128417552G>A	NCBI36
NG_017039.1:g.6010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.209G>A	ENSP00000347684.5:p.Arg70Gln
ENST00000373474.9:c.209G>A MANE Select	ENSP00000362573.3:p.Arg70Gln
ENST00000526117.6:c.209G>A	ENSP00000436930.1:p.Arg70Gln
ENST00000355497.9:c.209G>A	ENSP00000347684.5:p.Arg70Gln
ENST00000373474.8:c.209G>A	ENSP00000362573.3:p.Arg70Gln
ENST00000526117.5:c.209G>A	ENSP00000436930.1:p.Arg70Gln
ENST00000561065.1:c.140G>A	ENSP00000453580.1:p.Arg47Gln
NM_001174146.1:c.209G>A	NP_001167617.1:p.Arg70Gln
NM_001174147.1:c.209G>A	NP_001167618.1:p.Arg70Gln
NM_002316.3:c.209G>A	NP_002307.2:p.Arg70Gln
NM_001174146.2:c.209G>A	NP_001167617.1:p.Arg70Gln
NM_001174147.2:c.209G>A MANE Select	NP_001167618.1:p.Arg70Gln
NM_002316.4:c.209G>A	NP_002307.2:p.Arg70Gln