Canonical Allele Identifier: CA5242422

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 364884
• ClinVar RCV Id: RCV000295647 ; RCV002524584
• dbSNP Id: rs566334716
• ExAC: 9:129455788 C / G
• gnomAD v2: 9-129455788-C-G
• gnomAD v3: 9-126693509-C-G
• gnomAD v4: 9-126693509-C-G
• MyVariant Identifiers: chr9:g.129455788C>G (hg19) ; chr9:g.126693509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693509C>G , CM000671.2:g.126693509C>G	GRCh38
NC_000009.11:g.129455788C>G , CM000671.1:g.129455788C>G	GRCh37
NC_000009.10:g.128495609C>G	NCBI36
NG_017039.1:g.84067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.742-15C>G	ENSP00000347684.5:n.742-15C>G
ENST00000373474.9:c.742-15C>G MANE Select	ENSP00000362573.3:n.742-15C>G
ENST00000526117.6:c.742-15C>G	ENSP00000436930.1:n.742-15C>G
ENST00000355497.9:c.742-15C>G	ENSP00000347684.5:n.742-15C>G
ENST00000373474.8:c.742-15C>G	ENSP00000362573.3:n.742-15C>G
ENST00000526117.5:c.742-15C>G	ENSP00000436930.1:n.742-15C>G
ENST00000561065.1:c.673-15C>G	ENSP00000453580.1:n.673-15C>G
NM_001174146.1:c.742-15C>G	NP_001167617.1:n.742-15C>G
NM_001174147.1:c.742-15C>G	NP_001167618.1:n.742-15C>G
NM_002316.3:c.742-15C>G	NP_002307.2:n.742-15C>G
NM_001174146.2:c.742-15C>G	NP_001167617.1:n.742-15C>G
NM_001174147.2:c.742-15C>G MANE Select	NP_001167618.1:n.742-15C>G
NM_002316.4:c.742-15C>G	NP_002307.2:n.742-15C>G