Canonical Allele Identifier: CA374915012

Gene: LMX1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126695901C>T , CM000671.2:g.126695901C>T	GRCh38
NC_000009.11:g.129458180C>T , CM000671.1:g.129458180C>T	GRCh37
NC_000009.10:g.128498001C>T	NCBI36
NG_017039.1:g.86459C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001174147.2:c.949C>T MANE Select	NP_001167618.1:p.Gln317Ter
ENST00000373474.9:c.949C>T MANE Select	ENSP00000362573.3:p.Gln317Ter
NM_001174146.1:c.982C>T	NP_001167617.1:p.Gln328Ter
NM_001174146.2:c.982C>T	NP_001167617.1:p.Gln328Ter
NM_001174147.1:c.949C>T	NP_001167618.1:p.Gln317Ter
NM_002316.3:c.949C>T	NP_002307.2:p.Gln317Ter
NM_002316.4:c.949C>T	NP_002307.2:p.Gln317Ter
ENST00000355497.10:c.982C>T	ENSP00000347684.5:p.Gln328Ter
ENST00000355497.9:c.982C>T	ENSP00000347684.5:p.Gln328Ter
ENST00000373474.8:c.949C>T	ENSP00000362573.3:p.Gln317Ter
ENST00000526117.5:c.949C>T	ENSP00000436930.1:p.Gln317Ter
ENST00000526117.6:c.949C>T	ENSP00000436930.1:p.Gln317Ter
ENST00000561065.1:c.913C>T	ENSP00000453580.1:p.Gln305Ter