Canonical Allele Identifier: CA10628911

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126695924G>C , CM000671.2:g.126695924G>C	GRCh38
NC_000009.11:g.129458203G>C , CM000671.1:g.129458203G>C	GRCh37
NC_000009.10:g.128498024G>C	NCBI36
NG_017039.1:g.86482G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.972G>C MANE Select	NP_001167618.1:p.Gln324His
ENST00000373474.9:c.972G>C MANE Select	ENSP00000362573.3:p.Gln324His
NM_001174146.1:c.1005G>C	NP_001167617.1:p.Gln335His
NM_001174146.2:c.1005G>C	NP_001167617.1:p.Gln335His
NM_001174147.1:c.972G>C	NP_001167618.1:p.Gln324His
NM_002316.3:c.972G>C	NP_002307.2:p.Gln324His
NM_002316.4:c.972G>C	NP_002307.2:p.Gln324His
ENST00000355497.10:c.1005G>C	ENSP00000347684.5:p.Gln335His
ENST00000355497.9:c.1005G>C	ENSP00000347684.5:p.Gln335His
ENST00000373474.8:c.972G>C	ENSP00000362573.3:p.Gln324His
ENST00000526117.5:c.972G>C	ENSP00000436930.1:p.Gln324His
ENST00000526117.6:c.972G>C	ENSP00000436930.1:p.Gln324His
ENST00000561065.1:c.936G>C	ENSP00000453580.1:p.Gln312His