Canonical Allele Identifier: CA10628946
Gene: LMX1B HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.126698635A>G
GRCh37 chr9:g.129460914A>G
gnomAD v2:
9:129460914 A / G
gnomAD v3:
9:126698635 A / G
gnomAD v4:
chr9-126698635-A-G
Joint Max Group AF 0.71104525 (AFR)
Genomes Max Group AF 0.71104151 (AFR)
Exomes Max Group AF 0.38782194 (NFE)
ClinVar RCV:
RCV000360275
ClinVar Variation:
364952
dbSNP:
10733682
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126698635A>G , CM000671.2:g.126698635A>G GRCh38
NC_000009.11:g.129460914A>G , CM000671.1:g.129460914A>G GRCh37
NC_000009.10:g.128500735A>G NCBI36
NG_017039.1:g.89193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.*2184A>G ENSP00000347684.5:n.*2184A>G
ENST00000373474.9:c.*2184A>G MANE Select ENSP00000362573.3:n.*2184A>G
ENST00000526117.6:c.*2184A>G ENSP00000436930.1:n.*2184A>G
ENST00000355497.9:c.*2184A>G ENSP00000347684.5:n.*2184A>G
ENST00000373474.8:c.*2184A>G ENSP00000362573.3:n.*2184A>G
NM_001174146.1:c.*2184A>G NP_001167617.1:n.*2184A>G
NM_001174147.1:c.*2184A>G NP_001167618.1:n.*2184A>G
NM_002316.3:c.*2184A>G NP_002307.2:n.*2184A>G
NM_001174146.2:c.*2184A>G NP_001167617.1:n.*2184A>G
NM_001174147.2:c.*2184A>G MANE Select NP_001167618.1:n.*2184A>G
NM_002316.4:c.*2184A>G NP_002307.2:n.*2184A>G
Search 100 bp 5'
Search 100 bp 3'