Canonical Allele Identifier: CA2697558029

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2764771
• ClinVar RCV Id: RCV003572671

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615371T>G , CM000671.2:g.126615371T>G	GRCh38
NC_000009.11:g.129377650T>G , CM000671.1:g.129377650T>G	GRCh37
NC_000009.10:g.128417471T>G	NCBI36
NG_017039.1:g.5929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.140-12T>G	ENSP00000347684.5:n.140-12T>G
ENST00000373474.9:c.140-12T>G MANE Select	ENSP00000362573.3:n.140-12T>G
ENST00000526117.6:c.140-12T>G	ENSP00000436930.1:n.140-12T>G
ENST00000355497.9:c.140-12T>G	ENSP00000347684.5:n.140-12T>G
ENST00000373474.8:c.140-12T>G	ENSP00000362573.3:n.140-12T>G
ENST00000526117.5:c.140-12T>G	ENSP00000436930.1:n.140-12T>G
ENST00000561065.1:c.71-12T>G	ENSP00000453580.1:n.71-12T>G
NM_001174146.1:c.140-12T>G	NP_001167617.1:n.140-12T>G
NM_001174147.1:c.140-12T>G	NP_001167618.1:n.140-12T>G
NM_002316.3:c.140-12T>G	NP_002307.2:n.140-12T>G
NM_001174146.2:c.140-12T>G	NP_001167617.1:n.140-12T>G
NM_001174147.2:c.140-12T>G MANE Select	NP_001167618.1:n.140-12T>G
NM_002316.4:c.140-12T>G	NP_002307.2:n.140-12T>G