Canonical Allele Identifier: CA254051
Gene: LMX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 7005
dbSNP Id: rs121909489

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615487C>T , CM000671.2:g.126615487C>T GRCh38
NC_000009.11:g.129377766C>T , CM000671.1:g.129377766C>T GRCh37
NC_000009.10:g.128417587C>T NCBI36
NG_017039.1:g.6045C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.244C>T ENSP00000347684.5:p.Gln82Ter
ENST00000373474.9:c.244C>T MANE Select ENSP00000362573.3:p.Gln82Ter
ENST00000526117.6:c.244C>T ENSP00000436930.1:p.Gln82Ter
ENST00000355497.9:c.244C>T ENSP00000347684.5:p.Gln82Ter
ENST00000373474.8:c.244C>T ENSP00000362573.3:p.Gln82Ter
ENST00000526117.5:c.244C>T ENSP00000436930.1:p.Gln82Ter
ENST00000561065.1:c.175C>T ENSP00000453580.1:p.Gln59Ter
NM_001174146.1:c.244C>T NP_001167617.1:p.Gln82Ter
NM_001174147.1:c.244C>T NP_001167618.1:p.Gln82Ter
NM_002316.3:c.244C>T NP_002307.2:p.Gln82Ter
NM_001174146.2:c.244C>T NP_001167617.1:p.Gln82Ter
NM_001174147.2:c.244C>T MANE Select NP_001167618.1:p.Gln82Ter
NM_002316.4:c.244C>T NP_002307.2:p.Gln82Ter