Canonical Allele Identifier: CA374913725

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 522461
• ClinVar RCV Id: RCV000625602 ; RCV001860462
• dbSNP Id: rs1427331961
• gnomAD v4: 9-126693324-G-T
• MyVariant Identifiers: chr9:g.129455603G>T (hg19) ; chr9:g.126693324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693324G>T , CM000671.2:g.126693324G>T	GRCh38
NC_000009.11:g.129455603G>T , CM000671.1:g.129455603G>T	GRCh37
NC_000009.10:g.128495424G>T	NCBI36
NG_017039.1:g.83882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.741+1G>T	ENSP00000347684.5:n.741+1G>T
ENST00000373474.9:c.741+1G>T MANE Select	ENSP00000362573.3:n.741+1G>T
ENST00000526117.6:c.741+1G>T	ENSP00000436930.1:n.741+1G>T
ENST00000355497.9:c.741+1G>T	ENSP00000347684.5:n.741+1G>T
ENST00000373474.8:c.741+1G>T	ENSP00000362573.3:n.741+1G>T
ENST00000526117.5:c.741+1G>T	ENSP00000436930.1:n.741+1G>T
ENST00000561065.1:c.672+1G>T	ENSP00000453580.1:n.672+1G>T
NM_001174146.1:c.741+1G>T	NP_001167617.1:n.741+1G>T
NM_001174147.1:c.741+1G>T	NP_001167618.1:n.741+1G>T
NM_002316.3:c.741+1G>T	NP_002307.2:n.741+1G>T
NM_001174146.2:c.741+1G>T	NP_001167617.1:n.741+1G>T
NM_001174147.2:c.741+1G>T MANE Select	NP_001167618.1:n.741+1G>T
NM_002316.4:c.741+1G>T	NP_002307.2:n.741+1G>T