Canonical Allele Identifier: CA374913468
Gene: LMX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126693252A>G , CM000671.2:g.126693252A>G GRCh38
NC_000009.11:g.129455531A>G , CM000671.1:g.129455531A>G GRCh37
NC_000009.10:g.128495352A>G NCBI36
NG_017039.1:g.83810A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.670A>G ENSP00000347684.5:p.Thr224Ala
ENST00000373474.9:c.670A>G MANE Select ENSP00000362573.3:p.Thr224Ala
ENST00000526117.6:c.670A>G ENSP00000436930.1:p.Thr224Ala
ENST00000355497.9:c.670A>G ENSP00000347684.5:p.Thr224Ala
ENST00000373474.8:c.670A>G ENSP00000362573.3:p.Thr224Ala
ENST00000526117.5:c.670A>G ENSP00000436930.1:p.Thr224Ala
ENST00000561065.1:c.601A>G ENSP00000453580.1:p.Thr201Ala
NM_001174146.1:c.670A>G NP_001167617.1:p.Thr224Ala
NM_001174147.1:c.670A>G NP_001167618.1:p.Thr224Ala
NM_002316.3:c.670A>G NP_002307.2:p.Thr224Ala
NM_001174146.2:c.670A>G NP_001167617.1:p.Thr224Ala
NM_001174147.2:c.670A>G MANE Select NP_001167618.1:p.Thr224Ala
NM_002316.4:c.670A>G NP_002307.2:p.Thr224Ala