Canonical Allele Identifier: CA1879487069
Gene: LMX1B HGNC NCBI

Linked Data

dbSNP Id: rs2030486717
gnomAD v4: 9-126700013-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126700013C>A , CM000671.2:g.126700013C>A GRCh38
NC_000009.11:g.129462292C>A , CM000671.1:g.129462292C>A GRCh37
NC_000009.10:g.128502113C>A NCBI36
NG_017039.1:g.90571C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.*3562C>A ENSP00000347684.5:n.*3562C>A
ENST00000373474.9:c.*3562C>A MANE Select ENSP00000362573.3:n.*3562C>A
ENST00000526117.6:c.*3562C>A ENSP00000436930.1:n.*3562C>A
ENST00000355497.9:c.*3562C>A ENSP00000347684.5:n.*3562C>A
ENST00000373474.8:c.*3562C>A ENSP00000362573.3:n.*3562C>A
NM_001174146.1:c.*3562C>A NP_001167617.1:n.*3562C>A
NM_001174147.1:c.*3562C>A NP_001167618.1:n.*3562C>A
NM_002316.3:c.*3562C>A NP_002307.2:n.*3562C>A
NM_001174146.2:c.*3562C>A NP_001167617.1:n.*3562C>A
NM_001174147.2:c.*3562C>A MANE Select NP_001167618.1:n.*3562C>A
NM_002316.4:c.*3562C>A NP_002307.2:n.*3562C>A
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