Canonical Allele Identifier: CA374913031

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126693148-G-T
• MyVariant Identifiers: chr9:g.129455427G>T (hg19) ; chr9:g.126693148G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693148G>T , CM000671.2:g.126693148G>T	GRCh38
NC_000009.11:g.129455427G>T , CM000671.1:g.129455427G>T	GRCh37
NC_000009.10:g.128495248G>T	NCBI36
NG_017039.1:g.83706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.566G>T	ENSP00000347684.5:p.Ser189Ile
ENST00000373474.9:c.566G>T MANE Select	ENSP00000362573.3:p.Ser189Ile
ENST00000526117.6:c.566G>T	ENSP00000436930.1:p.Ser189Ile
ENST00000355497.9:c.566G>T	ENSP00000347684.5:p.Ser189Ile
ENST00000373474.8:c.566G>T	ENSP00000362573.3:p.Ser189Ile
ENST00000526117.5:c.566G>T	ENSP00000436930.1:p.Ser189Ile
ENST00000561065.1:c.497G>T	ENSP00000453580.1:p.Ser166Ile
NM_001174146.1:c.566G>T	NP_001167617.1:p.Ser189Ile
NM_001174147.1:c.566G>T	NP_001167618.1:p.Ser189Ile
NM_002316.3:c.566G>T	NP_002307.2:p.Ser189Ile
NM_001174146.2:c.566G>T	NP_001167617.1:p.Ser189Ile
NM_001174147.2:c.566G>T MANE Select	NP_001167618.1:p.Ser189Ile
NM_002316.4:c.566G>T	NP_002307.2:p.Ser189Ile