Canonical Allele Identifier: CA374910084

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2129237
• ClinVar RCV Id: RCV003057972
• MyVariant Identifiers: chr9:g.129377771C>G (hg19) ; chr9:g.126615492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615492C>G , CM000671.2:g.126615492C>G	GRCh38
NC_000009.11:g.129377771C>G , CM000671.1:g.129377771C>G	GRCh37
NC_000009.10:g.128417592C>G	NCBI36
NG_017039.1:g.6050C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.249C>G	ENSP00000347684.5:p.Cys83Trp
ENST00000373474.9:c.249C>G MANE Select	ENSP00000362573.3:p.Cys83Trp
ENST00000526117.6:c.249C>G	ENSP00000436930.1:p.Cys83Trp
ENST00000355497.9:c.249C>G	ENSP00000347684.5:p.Cys83Trp
ENST00000373474.8:c.249C>G	ENSP00000362573.3:p.Cys83Trp
ENST00000526117.5:c.249C>G	ENSP00000436930.1:p.Cys83Trp
ENST00000561065.1:c.180C>G	ENSP00000453580.1:p.Cys60Trp
NM_001174146.1:c.249C>G	NP_001167617.1:p.Cys83Trp
NM_001174147.1:c.249C>G	NP_001167618.1:p.Cys83Trp
NM_002316.3:c.249C>G	NP_002307.2:p.Cys83Trp
NM_001174146.2:c.249C>G	NP_001167617.1:p.Cys83Trp
NM_001174147.2:c.249C>G MANE Select	NP_001167618.1:p.Cys83Trp
NM_002316.4:c.249C>G	NP_002307.2:p.Cys83Trp