Canonical Allele Identifier: CA374909850
Gene: LMX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615389A>C , CM000671.2:g.126615389A>C GRCh38
NC_000009.11:g.129377668A>C , CM000671.1:g.129377668A>C GRCh37
NC_000009.10:g.128417489A>C NCBI36
NG_017039.1:g.5947A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.146A>C ENSP00000347684.5:p.Asp49Ala
ENST00000373474.9:c.146A>C MANE Select ENSP00000362573.3:p.Asp49Ala
ENST00000526117.6:c.146A>C ENSP00000436930.1:p.Asp49Ala
ENST00000355497.9:c.146A>C ENSP00000347684.5:p.Asp49Ala
ENST00000373474.8:c.146A>C ENSP00000362573.3:p.Asp49Ala
ENST00000526117.5:c.146A>C ENSP00000436930.1:p.Asp49Ala
ENST00000561065.1:c.77A>C ENSP00000453580.1:p.Asp26Ala
NM_001174146.1:c.146A>C NP_001167617.1:p.Asp49Ala
NM_001174147.1:c.146A>C NP_001167618.1:p.Asp49Ala
NM_002316.3:c.146A>C NP_002307.2:p.Asp49Ala
NM_001174146.2:c.146A>C NP_001167617.1:p.Asp49Ala
NM_001174147.2:c.146A>C MANE Select NP_001167618.1:p.Asp49Ala
NM_002316.4:c.146A>C NP_002307.2:p.Asp49Ala