Canonical Allele Identifier: CA16605467
Gene: LMX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 379916
ClinVar RCV Id: RCV000421725
dbSNP Id: rs1057520783
MyVariant Identifiers: chr9:g.129377748T>G (hg19) chr9:g.126615469T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615469T>G , CM000671.2:g.126615469T>G GRCh38
NC_000009.11:g.129377748T>G , CM000671.1:g.129377748T>G GRCh37
NC_000009.10:g.128417569T>G NCBI36
NG_017039.1:g.6027T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.226T>G ENSP00000347684.5:p.Trp76Gly
ENST00000373474.9:c.226T>G MANE Select ENSP00000362573.3:p.Trp76Gly
ENST00000526117.6:c.226T>G ENSP00000436930.1:p.Trp76Gly
ENST00000355497.9:c.226T>G ENSP00000347684.5:p.Trp76Gly
ENST00000373474.8:c.226T>G ENSP00000362573.3:p.Trp76Gly
ENST00000526117.5:c.226T>G ENSP00000436930.1:p.Trp76Gly
ENST00000561065.1:c.157T>G ENSP00000453580.1:p.Trp53Gly
NM_001174146.1:c.226T>G NP_001167617.1:p.Trp76Gly
NM_001174147.1:c.226T>G NP_001167618.1:p.Trp76Gly
NM_002316.3:c.226T>G NP_002307.2:p.Trp76Gly
NM_001174146.2:c.226T>G NP_001167617.1:p.Trp76Gly
NM_001174147.2:c.226T>G MANE Select NP_001167618.1:p.Trp76Gly
NM_002316.4:c.226T>G NP_002307.2:p.Trp76Gly
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