Canonical Allele Identifier: CA5242527

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126696030G>C , CM000671.2:g.126696030G>C	GRCh38
NC_000009.11:g.129458309G>C , CM000671.1:g.129458309G>C	GRCh37
NC_000009.10:g.128498130G>C	NCBI36
NG_017039.1:g.86588G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.1051+27G>C MANE Select	NP_001167618.1:n.1051+27G>C
ENST00000373474.9:c.1051+27G>C MANE Select	ENSP00000362573.3:n.1051+27G>C
NM_001174146.1:c.1063+48G>C	NP_001167617.1:n.1063+48G>C
NM_001174146.2:c.1063+48G>C	NP_001167617.1:n.1063+48G>C
NM_001174147.1:c.1051+27G>C	NP_001167618.1:n.1051+27G>C
NM_002316.3:c.1030+48G>C	NP_002307.2:n.1030+48G>C
NM_002316.4:c.1030+48G>C	NP_002307.2:n.1030+48G>C
ENST00000355497.10:c.1063+48G>C	ENSP00000347684.5:n.1063+48G>C
ENST00000355497.9:c.1063+48G>C	ENSP00000347684.5:n.1063+48G>C
ENST00000373474.8:c.1051+27G>C	ENSP00000362573.3:n.1051+27G>C
ENST00000526117.5:c.1030+48G>C	ENSP00000436930.1:n.1030+48G>C
ENST00000526117.6:c.1030+48G>C	ENSP00000436930.1:n.1030+48G>C
ENST00000561065.1:c.994+48G>C	ENSP00000453580.1:n.994+48G>C