Canonical Allele Identifier: CA374913910

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693578T>C , CM000671.2:g.126693578T>C	GRCh38
NC_000009.11:g.129455857T>C , CM000671.1:g.129455857T>C	GRCh37
NC_000009.10:g.128495678T>C	NCBI36
NG_017039.1:g.84136T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.796T>C MANE Select	NP_001167618.1:p.Trp266Arg
ENST00000373474.9:c.796T>C MANE Select	ENSP00000362573.3:p.Trp266Arg
NM_001174146.1:c.796T>C	NP_001167617.1:p.Trp266Arg
NM_001174146.2:c.796T>C	NP_001167617.1:p.Trp266Arg
NM_001174147.1:c.796T>C	NP_001167618.1:p.Trp266Arg
NM_002316.3:c.796T>C	NP_002307.2:p.Trp266Arg
NM_002316.4:c.796T>C	NP_002307.2:p.Trp266Arg
ENST00000355497.10:c.796T>C	ENSP00000347684.5:p.Trp266Arg
ENST00000355497.9:c.796T>C	ENSP00000347684.5:p.Trp266Arg
ENST00000373474.8:c.796T>C	ENSP00000362573.3:p.Trp266Arg
ENST00000526117.5:c.796T>C	ENSP00000436930.1:p.Trp266Arg
ENST00000526117.6:c.796T>C	ENSP00000436930.1:p.Trp266Arg
ENST00000561065.1:c.727T>C	ENSP00000453580.1:p.Trp243Arg