Canonical Allele Identifier: CA2691715963

Gene: LMX1B

Linked Data

• gnomAD v4: 9-126700009-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126700009A>G , CM000671.2:g.126700009A>G	GRCh38
NC_000009.11:g.129462288A>G , CM000671.1:g.129462288A>G	GRCh37
NC_000009.10:g.128502109A>G	NCBI36
NG_017039.1:g.90567A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.*3558A>G	ENSP00000347684.5:n.*3558A>G
ENST00000373474.9:c.*3558A>G MANE Select	ENSP00000362573.3:n.*3558A>G
ENST00000526117.6:c.*3558A>G	ENSP00000436930.1:n.*3558A>G
ENST00000355497.9:c.*3558A>G	ENSP00000347684.5:n.*3558A>G
ENST00000373474.8:c.*3558A>G	ENSP00000362573.3:n.*3558A>G
NM_001174146.1:c.*3558A>G	NP_001167617.1:n.*3558A>G
NM_001174147.1:c.*3558A>G	NP_001167618.1:n.*3558A>G
NM_002316.3:c.*3558A>G	NP_002307.2:n.*3558A>G
NM_001174146.2:c.*3558A>G	NP_001167617.1:n.*3558A>G
NM_001174147.2:c.*3558A>G MANE Select	NP_001167618.1:n.*3558A>G
NM_002316.4:c.*3558A>G	NP_002307.2:n.*3558A>G