Canonical Allele Identifier: CA254041

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 7000
• ClinVar RCV Id: RCV000007415 ; RCV001380261
• dbSNP Id: rs121909486
• MyVariant Identifiers: chr9:g.129455868C>A (hg19) ; chr9:g.126693589C>A (hg38)
• PubMed: PMID:9590287

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693589C>A , CM000671.2:g.126693589C>A	GRCh38
NC_000009.11:g.129455868C>A , CM000671.1:g.129455868C>A	GRCh37
NC_000009.10:g.128495689C>A	NCBI36
NG_017039.1:g.84147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.807C>A	ENSP00000347684.5:p.Asn269Lys
ENST00000373474.9:c.807C>A MANE Select	ENSP00000362573.3:p.Asn269Lys
ENST00000526117.6:c.807C>A	ENSP00000436930.1:p.Asn269Lys
ENST00000355497.9:c.807C>A	ENSP00000347684.5:p.Asn269Lys
ENST00000373474.8:c.807C>A	ENSP00000362573.3:p.Asn269Lys
ENST00000526117.5:c.807C>A	ENSP00000436930.1:p.Asn269Lys
ENST00000561065.1:c.738C>A	ENSP00000453580.1:p.Asn246Lys
NM_001174146.1:c.807C>A	NP_001167617.1:p.Asn269Lys
NM_001174147.1:c.807C>A	NP_001167618.1:p.Asn269Lys
NM_002316.3:c.807C>A	NP_002307.2:p.Asn269Lys
NM_001174146.2:c.807C>A	NP_001167617.1:p.Asn269Lys
NM_001174147.2:c.807C>A MANE Select	NP_001167618.1:p.Asn269Lys
NM_002316.4:c.807C>A	NP_002307.2:p.Asn269Lys