Canonical Allele Identifier: CA374913028
Gene: LMX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126693147A>T , CM000671.2:g.126693147A>T GRCh38
NC_000009.11:g.129455426A>T , CM000671.1:g.129455426A>T GRCh37
NC_000009.10:g.128495247A>T NCBI36
NG_017039.1:g.83705A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.565A>T ENSP00000347684.5:p.Ser189Cys
ENST00000373474.9:c.565A>T MANE Select ENSP00000362573.3:p.Ser189Cys
ENST00000526117.6:c.565A>T ENSP00000436930.1:p.Ser189Cys
ENST00000355497.9:c.565A>T ENSP00000347684.5:p.Ser189Cys
ENST00000373474.8:c.565A>T ENSP00000362573.3:p.Ser189Cys
ENST00000526117.5:c.565A>T ENSP00000436930.1:p.Ser189Cys
ENST00000561065.1:c.496A>T ENSP00000453580.1:p.Ser166Cys
NM_001174146.1:c.565A>T NP_001167617.1:p.Ser189Cys
NM_001174147.1:c.565A>T NP_001167618.1:p.Ser189Cys
NM_002316.3:c.565A>T NP_002307.2:p.Ser189Cys
NM_001174146.2:c.565A>T NP_001167617.1:p.Ser189Cys
NM_001174147.2:c.565A>T MANE Select NP_001167618.1:p.Ser189Cys
NM_002316.4:c.565A>T NP_002307.2:p.Ser189Cys