Canonical Allele Identifier: CA467136333

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 774202
• ClinVar RCV Id: RCV000954124
• dbSNP Id: rs1423332912
• gnomAD v3: 9-126615474-C-T
• gnomAD v4: 9-126615474-C-T
• MyVariant Identifiers: chr9:g.129377753C>T (hg19) ; chr9:g.126615474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126615474C>T , CM000671.2:g.126615474C>T	GRCh38
NC_000009.11:g.129377753C>T , CM000671.1:g.129377753C>T	GRCh37
NC_000009.10:g.128417574C>T	NCBI36
NG_017039.1:g.6032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.231C>T	ENSP00000347684.5:p.His77=
ENST00000373474.9:c.231C>T MANE Select	ENSP00000362573.3:p.His77=
ENST00000526117.6:c.231C>T	ENSP00000436930.1:p.His77=
ENST00000355497.9:c.231C>T	ENSP00000347684.5:p.His77=
ENST00000373474.8:c.231C>T	ENSP00000362573.3:p.His77=
ENST00000526117.5:c.231C>T	ENSP00000436930.1:p.His77=
ENST00000561065.1:c.162C>T	ENSP00000453580.1:p.His54=
NM_001174146.1:c.231C>T	NP_001167617.1:p.His77=
NM_001174147.1:c.231C>T	NP_001167618.1:p.His77=
NM_002316.3:c.231C>T	NP_002307.2:p.His77=
NM_001174146.2:c.231C>T	NP_001167617.1:p.His77=
NM_001174147.2:c.231C>T MANE Select	NP_001167618.1:p.His77=
NM_002316.4:c.231C>T	NP_002307.2:p.His77=