Canonical Allele Identifier: CA374913769

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693527C>G , CM000671.2:g.126693527C>G	GRCh38
NC_000009.11:g.129455806C>G , CM000671.1:g.129455806C>G	GRCh37
NC_000009.10:g.128495627C>G	NCBI36
NG_017039.1:g.84085C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.745C>G MANE Select	NP_001167618.1:p.Arg249Gly
ENST00000373474.9:c.745C>G MANE Select	ENSP00000362573.3:p.Arg249Gly
NM_001174146.1:c.745C>G	NP_001167617.1:p.Arg249Gly
NM_001174146.2:c.745C>G	NP_001167617.1:p.Arg249Gly
NM_001174147.1:c.745C>G	NP_001167618.1:p.Arg249Gly
NM_002316.3:c.745C>G	NP_002307.2:p.Arg249Gly
NM_002316.4:c.745C>G	NP_002307.2:p.Arg249Gly
ENST00000355497.10:c.745C>G	ENSP00000347684.5:p.Arg249Gly
ENST00000355497.9:c.745C>G	ENSP00000347684.5:p.Arg249Gly
ENST00000373474.8:c.745C>G	ENSP00000362573.3:p.Arg249Gly
ENST00000526117.5:c.745C>G	ENSP00000436930.1:p.Arg249Gly
ENST00000526117.6:c.745C>G	ENSP00000436930.1:p.Arg249Gly
ENST00000561065.1:c.676C>G	ENSP00000453580.1:p.Arg226Gly