Canonical Allele Identifier: CA467136481

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126693143-G-A
• MyVariant Identifiers: chr9:g.129455422G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693143G>A , CM000671.2:g.126693143G>A	GRCh38
NC_000009.11:g.129455422G>A , CM000671.1:g.129455422G>A	GRCh37
NC_000009.10:g.128495243G>A	NCBI36
NG_017039.1:g.83701G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.561G>A	ENSP00000347684.5:p.Val187=
ENST00000373474.9:c.561G>A MANE Select	ENSP00000362573.3:p.Val187=
ENST00000526117.6:c.561G>A	ENSP00000436930.1:p.Val187=
ENST00000355497.9:c.561G>A	ENSP00000347684.5:p.Val187=
ENST00000373474.8:c.561G>A	ENSP00000362573.3:p.Val187=
ENST00000526117.5:c.561G>A	ENSP00000436930.1:p.Val187=
ENST00000561065.1:c.492G>A	ENSP00000453580.1:p.Val164=
NM_001174146.1:c.561G>A	NP_001167617.1:p.Val187=
NM_001174147.1:c.561G>A	NP_001167618.1:p.Val187=
NM_002316.3:c.561G>A	NP_002307.2:p.Val187=
NM_001174146.2:c.561G>A	NP_001167617.1:p.Val187=
NM_001174147.2:c.561G>A MANE Select	NP_001167618.1:p.Val187=
NM_002316.4:c.561G>A	NP_002307.2:p.Val187=