Canonical Allele Identifier: CA374914907

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126695867G>C , CM000671.2:g.126695867G>C	GRCh38
NC_000009.11:g.129458146G>C , CM000671.1:g.129458146G>C	GRCh37
NC_000009.10:g.128497967G>C	NCBI36
NG_017039.1:g.86425G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.915G>C MANE Select	NP_001167618.1:p.Met305Ile
ENST00000373474.9:c.915G>C MANE Select	ENSP00000362573.3:p.Met305Ile
NM_001174146.1:c.948G>C	NP_001167617.1:p.Met316Ile
NM_001174146.2:c.948G>C	NP_001167617.1:p.Met316Ile
NM_001174147.1:c.915G>C	NP_001167618.1:p.Met305Ile
NM_002316.3:c.915G>C	NP_002307.2:p.Met305Ile
NM_002316.4:c.915G>C	NP_002307.2:p.Met305Ile
ENST00000355497.10:c.948G>C	ENSP00000347684.5:p.Met316Ile
ENST00000355497.9:c.948G>C	ENSP00000347684.5:p.Met316Ile
ENST00000373474.8:c.915G>C	ENSP00000362573.3:p.Met305Ile
ENST00000526117.5:c.915G>C	ENSP00000436930.1:p.Met305Ile
ENST00000526117.6:c.915G>C	ENSP00000436930.1:p.Met305Ile
ENST00000561065.1:c.879G>C	ENSP00000453580.1:p.Met293Ile