Canonical Allele Identifier: CA199809581
Community Standard Title: NM_001174147.2(LMX1B):c.327-283T>A
Gene: LMX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126690553T>A , CM000671.2:g.126690553T>A GRCh38
NC_000009.11:g.129452832T>A , CM000671.1:g.129452832T>A GRCh37
NC_000009.10:g.128492653T>A NCBI36
NG_017039.1:g.81111T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001174147.2:c.327-283T>A MANE Select NP_001167618.1:n.327-283T>A
ENST00000373474.9:c.327-283T>A MANE Select ENSP00000362573.3:n.327-283T>A
NM_001174146.1:c.327-283T>A NP_001167617.1:n.327-283T>A
NM_001174146.2:c.327-283T>A NP_001167617.1:n.327-283T>A
NM_001174147.1:c.327-283T>A NP_001167618.1:n.327-283T>A
NM_002316.3:c.327-283T>A NP_002307.2:n.327-283T>A
NM_002316.4:c.327-283T>A NP_002307.2:n.327-283T>A
ENST00000355497.10:c.327-283T>A ENSP00000347684.5:n.327-283T>A
ENST00000355497.9:c.327-283T>A ENSP00000347684.5:n.327-283T>A
ENST00000373474.8:c.327-283T>A ENSP00000362573.3:n.327-283T>A
ENST00000526117.5:c.327-283T>A ENSP00000436930.1:n.327-283T>A
ENST00000526117.6:c.327-283T>A ENSP00000436930.1:n.327-283T>A
ENST00000561065.1:c.258-283T>A ENSP00000453580.1:n.258-283T>A