Canonical Allele Identifier: CA374909877
Gene: LMX1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615400C>A , CM000671.2:g.126615400C>A GRCh38
NC_000009.11:g.129377679C>A , CM000671.1:g.129377679C>A GRCh37
NC_000009.10:g.128417500C>A NCBI36
NG_017039.1:g.5958C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.157C>A ENSP00000347684.5:p.Pro53Thr
ENST00000373474.9:c.157C>A MANE Select ENSP00000362573.3:p.Pro53Thr
ENST00000526117.6:c.157C>A ENSP00000436930.1:p.Pro53Thr
ENST00000355497.9:c.157C>A ENSP00000347684.5:p.Pro53Thr
ENST00000373474.8:c.157C>A ENSP00000362573.3:p.Pro53Thr
ENST00000526117.5:c.157C>A ENSP00000436930.1:p.Pro53Thr
ENST00000561065.1:c.88C>A ENSP00000453580.1:p.Pro30Thr
NM_001174146.1:c.157C>A NP_001167617.1:p.Pro53Thr
NM_001174147.1:c.157C>A NP_001167618.1:p.Pro53Thr
NM_002316.3:c.157C>A NP_002307.2:p.Pro53Thr
NM_001174146.2:c.157C>A NP_001167617.1:p.Pro53Thr
NM_001174147.2:c.157C>A MANE Select NP_001167618.1:p.Pro53Thr
NM_002316.4:c.157C>A NP_002307.2:p.Pro53Thr