Canonical Allele Identifier: CA5242379

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 2898921
• ClinVar RCV Id: RCV003728709
• dbSNP Id: rs143407067
• ExAC: 9:129455527 C / T
• gnomAD v2: 9-129455527-C-T
• gnomAD v3: 9-126693248-C-T
• gnomAD v4: 9-126693248-C-T
• MyVariant Identifiers: chr9:g.129455527C>T (hg19) ; chr9:g.126693248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126693248C>T , CM000671.2:g.126693248C>T	GRCh38
NC_000009.11:g.129455527C>T , CM000671.1:g.129455527C>T	GRCh37
NC_000009.10:g.128495348C>T	NCBI36
NG_017039.1:g.83806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.666C>T	ENSP00000347684.5:p.Pro222=
ENST00000373474.9:c.666C>T MANE Select	ENSP00000362573.3:p.Pro222=
ENST00000526117.6:c.666C>T	ENSP00000436930.1:p.Pro222=
ENST00000355497.9:c.666C>T	ENSP00000347684.5:p.Pro222=
ENST00000373474.8:c.666C>T	ENSP00000362573.3:p.Pro222=
ENST00000526117.5:c.666C>T	ENSP00000436930.1:p.Pro222=
ENST00000561065.1:c.597C>T	ENSP00000453580.1:p.Pro199=
NM_001174146.1:c.666C>T	NP_001167617.1:p.Pro222=
NM_001174147.1:c.666C>T	NP_001167618.1:p.Pro222=
NM_002316.3:c.666C>T	NP_002307.2:p.Pro222=
NM_001174146.2:c.666C>T	NP_001167617.1:p.Pro222=
NM_001174147.2:c.666C>T MANE Select	NP_001167618.1:p.Pro222=
NM_002316.4:c.666C>T	NP_002307.2:p.Pro222=