Canonical Allele Identifier: CA12971810
Gene: LMX1B HGNC NCBI
COSMIC:
COSN14771082 (not active)
MyVariant.info:
GRCh38 chr9:g.126637749T>C
GRCh37 chr9:g.129400028T>C
gnomAD v2:
9:129400028 T / C
gnomAD v3:
9:126637749 T / C
gnomAD v4:
chr9-126637749-T-C
Joint Max Group AF 0.95892122 (EAS)
Genomes Max Group AF 0.95892122 (EAS)
dbSNP:
7859156
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126637749T>C , CM000671.2:g.126637749T>C GRCh38
NC_000009.11:g.129400028T>C , CM000671.1:g.129400028T>C GRCh37
NC_000009.10:g.128439849T>C NCBI36
NG_017039.1:g.28307T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.326+22180T>C ENSP00000347684.5:n.326+22180T>C
ENST00000373474.9:c.326+22180T>C MANE Select ENSP00000362573.3:n.326+22180T>C
ENST00000526117.6:c.326+22180T>C ENSP00000436930.1:n.326+22180T>C
ENST00000355497.9:c.326+22180T>C ENSP00000347684.5:n.326+22180T>C
ENST00000373474.8:c.326+22180T>C ENSP00000362573.3:n.326+22180T>C
ENST00000526117.5:c.326+22180T>C ENSP00000436930.1:n.326+22180T>C
ENST00000561065.1:c.257+22180T>C ENSP00000453580.1:n.257+22180T>C
NM_001174146.1:c.326+22180T>C NP_001167617.1:n.326+22180T>C
NM_001174147.1:c.326+22180T>C NP_001167618.1:n.326+22180T>C
NM_002316.3:c.326+22180T>C NP_002307.2:n.326+22180T>C
NM_001174146.2:c.326+22180T>C NP_001167617.1:n.326+22180T>C
NM_001174147.2:c.326+22180T>C MANE Select NP_001167618.1:n.326+22180T>C
NM_002316.4:c.326+22180T>C NP_002307.2:n.326+22180T>C
Search 100 bp 5'
Search 100 bp 3'