Canonical Allele Identifier: CA5242488

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126695885G>T , CM000671.2:g.126695885G>T	GRCh38
NC_000009.11:g.129458164G>T , CM000671.1:g.129458164G>T	GRCh37
NC_000009.10:g.128497985G>T	NCBI36
NG_017039.1:g.86443G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.933G>T MANE Select	NP_001167618.1:p.Pro311=
ENST00000373474.9:c.933G>T MANE Select	ENSP00000362573.3:p.Pro311=
NM_001174146.1:c.966G>T	NP_001167617.1:p.Pro322=
NM_001174146.2:c.966G>T	NP_001167617.1:p.Pro322=
NM_001174147.1:c.933G>T	NP_001167618.1:p.Pro311=
NM_002316.3:c.933G>T	NP_002307.2:p.Pro311=
NM_002316.4:c.933G>T	NP_002307.2:p.Pro311=
ENST00000355497.10:c.966G>T	ENSP00000347684.5:p.Pro322=
ENST00000355497.9:c.966G>T	ENSP00000347684.5:p.Pro322=
ENST00000373474.8:c.933G>T	ENSP00000362573.3:p.Pro311=
ENST00000526117.5:c.933G>T	ENSP00000436930.1:p.Pro311=
ENST00000526117.6:c.933G>T	ENSP00000436930.1:p.Pro311=
ENST00000561065.1:c.897G>T	ENSP00000453580.1:p.Pro299=