Canonical Allele Identifier: CA645293877

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 427734
• ClinVar RCV Id: RCV000490642 ; RCV001865521
• dbSNP Id: rs1114167421
• MyVariant Identifiers: chr9:g.129376872G>C (hg19) ; chr9:g.126614593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126614593G>C , CM000671.2:g.126614593G>C	GRCh38
NC_000009.11:g.129376872G>C , CM000671.1:g.129376872G>C	GRCh37
NC_000009.10:g.128416693G>C	NCBI36
NG_017039.1:g.5151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.139+5G>C	ENSP00000347684.5:n.139+5G>C
ENST00000373474.9:c.139+5G>C MANE Select	ENSP00000362573.3:n.139+5G>C
ENST00000526117.6:c.139+5G>C	ENSP00000436930.1:n.139+5G>C
ENST00000355497.9:c.139+5G>C	ENSP00000347684.5:n.139+5G>C
ENST00000373474.8:c.139+5G>C	ENSP00000362573.3:n.139+5G>C
ENST00000526117.5:c.139+5G>C	ENSP00000436930.1:n.139+5G>C
ENST00000561065.1:c.70+5G>C	ENSP00000453580.1:n.70+5G>C
NM_001174146.1:c.139+5G>C	NP_001167617.1:n.139+5G>C
NM_001174147.1:c.139+5G>C	NP_001167618.1:n.139+5G>C
NM_002316.3:c.139+5G>C	NP_002307.2:n.139+5G>C
NM_001174146.2:c.139+5G>C	NP_001167617.1:n.139+5G>C
NM_001174147.2:c.139+5G>C MANE Select	NP_001167618.1:n.139+5G>C
NM_002316.4:c.139+5G>C	NP_002307.2:n.139+5G>C