Canonical Allele Identifier: CA1129174279

Gene: LMX1B

Linked Data

• dbSNP Id: rs2030486805
• gnomAD v3: 9-126700015-C-G
• gnomAD v4: 9-126700015-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126700015C>G , CM000671.2:g.126700015C>G	GRCh38
NC_000009.11:g.129462294C>G , CM000671.1:g.129462294C>G	GRCh37
NC_000009.10:g.128502115C>G	NCBI36
NG_017039.1:g.90573C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.*3564C>G	ENSP00000347684.5:n.*3564C>G
ENST00000373474.9:c.*3564C>G MANE Select	ENSP00000362573.3:n.*3564C>G
ENST00000526117.6:c.*3564C>G	ENSP00000436930.1:n.*3564C>G
ENST00000355497.9:c.*3564C>G	ENSP00000347684.5:n.*3564C>G
ENST00000373474.8:c.*3564C>G	ENSP00000362573.3:n.*3564C>G
NM_001174146.1:c.*3564C>G	NP_001167617.1:n.*3564C>G
NM_001174147.1:c.*3564C>G	NP_001167618.1:n.*3564C>G
NM_002316.3:c.*3564C>G	NP_002307.2:n.*3564C>G
NM_001174146.2:c.*3564C>G	NP_001167617.1:n.*3564C>G
NM_001174147.2:c.*3564C>G MANE Select	NP_001167618.1:n.*3564C>G
NM_002316.4:c.*3564C>G	NP_002307.2:n.*3564C>G