Canonical Allele Identifier: CA374913461

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 3036205
• ClinVar RCV Id: RCV003904566
• MyVariant Identifiers: chr9:g.129455529G>C (hg19) ; chr9:g.126693250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693250G>C , CM000671.2:g.126693250G>C	GRCh38
NC_000009.11:g.129455529G>C , CM000671.1:g.129455529G>C	GRCh37
NC_000009.10:g.128495350G>C	NCBI36
NG_017039.1:g.83808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.668G>C	ENSP00000347684.5:p.Arg223Pro
ENST00000373474.9:c.668G>C MANE Select	ENSP00000362573.3:p.Arg223Pro
ENST00000526117.6:c.668G>C	ENSP00000436930.1:p.Arg223Pro
ENST00000355497.9:c.668G>C	ENSP00000347684.5:p.Arg223Pro
ENST00000373474.8:c.668G>C	ENSP00000362573.3:p.Arg223Pro
ENST00000526117.5:c.668G>C	ENSP00000436930.1:p.Arg223Pro
ENST00000561065.1:c.599G>C	ENSP00000453580.1:p.Arg200Pro
NM_001174146.1:c.668G>C	NP_001167617.1:p.Arg223Pro
NM_001174147.1:c.668G>C	NP_001167618.1:p.Arg223Pro
NM_002316.3:c.668G>C	NP_002307.2:p.Arg223Pro
NM_001174146.2:c.668G>C	NP_001167617.1:p.Arg223Pro
NM_001174147.2:c.668G>C MANE Select	NP_001167618.1:p.Arg223Pro
NM_002316.4:c.668G>C	NP_002307.2:p.Arg223Pro