Canonical Allele Identifier: CA5242204
Gene: LMX1B HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.126614506G>A
GRCh37 chr9:g.129376785G>A
gnomAD v2:
9:129376785 G / A
gnomAD v3:
9:126614506 G / A
gnomAD v4:
chr9-126614506-G-A
Joint Max Group AF 0.00000765 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000654 (NFE)
ClinVar RCV:
RCV000319964
RCV002061315
ClinVar Variation:
364876
dbSNP:
376265443
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126614506G>A , CM000671.2:g.126614506G>A GRCh38
NC_000009.11:g.129376785G>A , CM000671.1:g.129376785G>A GRCh37
NC_000009.10:g.128416606G>A NCBI36
NG_017039.1:g.5064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.57G>A ENSP00000347684.5:p.Thr19=
ENST00000373474.9:c.57G>A MANE Select ENSP00000362573.3:p.Thr19=
ENST00000526117.6:c.57G>A ENSP00000436930.1:p.Thr19=
ENST00000355497.9:c.57G>A ENSP00000347684.5:p.Thr19=
ENST00000373474.8:c.57G>A ENSP00000362573.3:p.Thr19=
ENST00000526117.5:c.57G>A ENSP00000436930.1:p.Thr19=
ENST00000561065.1:c.-13G>A ENSP00000453580.1:n.-13G>A
NM_001174146.1:c.57G>A NP_001167617.1:p.Thr19=
NM_001174147.1:c.57G>A NP_001167618.1:p.Thr19=
NM_002316.3:c.57G>A NP_002307.2:p.Thr19=
NM_001174146.2:c.57G>A NP_001167617.1:p.Thr19=
NM_001174147.2:c.57G>A MANE Select NP_001167618.1:p.Thr19=
NM_002316.4:c.57G>A NP_002307.2:p.Thr19=
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