Canonical Allele Identifier: CA374909871

Gene: LMX1B

Linked Data

• COSMIC: COSM3904129 ; COSM3904130 ; COSM3904131
• MyVariant Identifiers: chr9:g.129377676C>T (hg19) ; chr9:g.126615397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615397C>T , CM000671.2:g.126615397C>T	GRCh38
NC_000009.11:g.129377676C>T , CM000671.1:g.129377676C>T	GRCh37
NC_000009.10:g.128417497C>T	NCBI36
NG_017039.1:g.5955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.154C>T	ENSP00000347684.5:p.His52Tyr
ENST00000373474.9:c.154C>T MANE Select	ENSP00000362573.3:p.His52Tyr
ENST00000526117.6:c.154C>T	ENSP00000436930.1:p.His52Tyr
ENST00000355497.9:c.154C>T	ENSP00000347684.5:p.His52Tyr
ENST00000373474.8:c.154C>T	ENSP00000362573.3:p.His52Tyr
ENST00000526117.5:c.154C>T	ENSP00000436930.1:p.His52Tyr
ENST00000561065.1:c.85C>T	ENSP00000453580.1:p.His29Tyr
NM_001174146.1:c.154C>T	NP_001167617.1:p.His52Tyr
NM_001174147.1:c.154C>T	NP_001167618.1:p.His52Tyr
NM_002316.3:c.154C>T	NP_002307.2:p.His52Tyr
NM_001174146.2:c.154C>T	NP_001167617.1:p.His52Tyr
NM_001174147.2:c.154C>T MANE Select	NP_001167618.1:p.His52Tyr
NM_002316.4:c.154C>T	NP_002307.2:p.His52Tyr