Canonical Allele Identifier: CA5242238

Gene: LMX1B

Linked Data

• dbSNP Id: rs752807636
• ExAC: 9:129377663 C / T
• gnomAD v2: 9-129377663-C-T
• gnomAD v4: 9-126615384-C-T
• MyVariant Identifiers: chr9:g.129377663C>T (hg19) ; chr9:g.126615384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615384C>T , CM000671.2:g.126615384C>T	GRCh38
NC_000009.11:g.129377663C>T , CM000671.1:g.129377663C>T	GRCh37
NC_000009.10:g.128417484C>T	NCBI36
NG_017039.1:g.5942C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355497.10:c.141C>T	ENSP00000347684.5:p.Gly47=
ENST00000373474.9:c.141C>T MANE Select	ENSP00000362573.3:p.Gly47=
ENST00000526117.6:c.141C>T	ENSP00000436930.1:p.Gly47=
ENST00000355497.9:c.141C>T	ENSP00000347684.5:p.Gly47=
ENST00000373474.8:c.141C>T	ENSP00000362573.3:p.Gly47=
ENST00000526117.5:c.141C>T	ENSP00000436930.1:p.Gly47=
ENST00000561065.1:c.72C>T	ENSP00000453580.1:p.Gly24=
NM_001174146.1:c.141C>T	NP_001167617.1:p.Gly47=
NM_001174147.1:c.141C>T	NP_001167618.1:p.Gly47=
NM_002316.3:c.141C>T	NP_002307.2:p.Gly47=
NM_001174146.2:c.141C>T	NP_001167617.1:p.Gly47=
NM_001174147.2:c.141C>T MANE Select	NP_001167618.1:p.Gly47=
NM_002316.4:c.141C>T	NP_002307.2:p.Gly47=