Canonical Allele Identifier: CA467136315
Gene: LMX1B HGNC NCBI

Linked Data

dbSNP Id: rs374685767
MyVariant Identifiers: chr9:g.129377732A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615453A>T , CM000671.2:g.126615453A>T GRCh38
NC_000009.11:g.129377732A>T , CM000671.1:g.129377732A>T GRCh37
NC_000009.10:g.128417553A>T NCBI36
NG_017039.1:g.6011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355497.10:c.210A>T ENSP00000347684.5:p.Arg70=
ENST00000373474.9:c.210A>T MANE Select ENSP00000362573.3:p.Arg70=
ENST00000526117.6:c.210A>T ENSP00000436930.1:p.Arg70=
ENST00000355497.9:c.210A>T ENSP00000347684.5:p.Arg70=
ENST00000373474.8:c.210A>T ENSP00000362573.3:p.Arg70=
ENST00000526117.5:c.210A>T ENSP00000436930.1:p.Arg70=
ENST00000561065.1:c.141A>T ENSP00000453580.1:p.Arg47=
NM_001174146.1:c.210A>T NP_001167617.1:p.Arg70=
NM_001174147.1:c.210A>T NP_001167618.1:p.Arg70=
NM_002316.3:c.210A>T NP_002307.2:p.Arg70=
NM_001174146.2:c.210A>T NP_001167617.1:p.Arg70=
NM_001174147.2:c.210A>T MANE Select NP_001167618.1:p.Arg70=
NM_002316.4:c.210A>T NP_002307.2:p.Arg70=