Canonical Allele Identifier: CA374910079

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2735328
• ClinVar RCV Id: RCV003557476
• MyVariant Identifiers: chr9:g.129377769T>C (hg19) ; chr9:g.126615490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615490T>C , CM000671.2:g.126615490T>C	GRCh38
NC_000009.11:g.129377769T>C , CM000671.1:g.129377769T>C	GRCh37
NC_000009.10:g.128417590T>C	NCBI36
NG_017039.1:g.6048T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.247T>C	ENSP00000347684.5:p.Cys83Arg
ENST00000373474.9:c.247T>C MANE Select	ENSP00000362573.3:p.Cys83Arg
ENST00000526117.6:c.247T>C	ENSP00000436930.1:p.Cys83Arg
ENST00000355497.9:c.247T>C	ENSP00000347684.5:p.Cys83Arg
ENST00000373474.8:c.247T>C	ENSP00000362573.3:p.Cys83Arg
ENST00000526117.5:c.247T>C	ENSP00000436930.1:p.Cys83Arg
ENST00000561065.1:c.178T>C	ENSP00000453580.1:p.Cys60Arg
NM_001174146.1:c.247T>C	NP_001167617.1:p.Cys83Arg
NM_001174147.1:c.247T>C	NP_001167618.1:p.Cys83Arg
NM_002316.3:c.247T>C	NP_002307.2:p.Cys83Arg
NM_001174146.2:c.247T>C	NP_001167617.1:p.Cys83Arg
NM_001174147.2:c.247T>C MANE Select	NP_001167618.1:p.Cys83Arg
NM_002316.4:c.247T>C	NP_002307.2:p.Cys83Arg