Canonical Allele Identifier: CA5242220

Gene: LMX1B

Linked Data

• ClinVar Variation Id: 258621
• ClinVar RCV Id: RCV000247952 ; RCV002058109 ; RCV002494736
• dbSNP Id: rs371424668
• ExAC: 9:129376886 C / T
• gnomAD v2: 9-129376886-C-T
• gnomAD v3: 9-126614607-C-T
• gnomAD v4: 9-126614607-C-T
• MyVariant Identifiers: chr9:g.129376886C>T (hg19) ; chr9:g.126614607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.126614607C>T , CM000671.2:g.126614607C>T	GRCh38
NC_000009.11:g.129376886C>T , CM000671.1:g.129376886C>T	GRCh37
NC_000009.10:g.128416707C>T	NCBI36
NG_017039.1:g.5165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355497.10:c.139+19C>T	ENSP00000347684.5:n.139+19C>T
ENST00000373474.9:c.139+19C>T MANE Select	ENSP00000362573.3:n.139+19C>T
ENST00000526117.6:c.139+19C>T	ENSP00000436930.1:n.139+19C>T
ENST00000355497.9:c.139+19C>T	ENSP00000347684.5:n.139+19C>T
ENST00000373474.8:c.139+19C>T	ENSP00000362573.3:n.139+19C>T
ENST00000526117.5:c.139+19C>T	ENSP00000436930.1:n.139+19C>T
ENST00000561065.1:c.70+19C>T	ENSP00000453580.1:n.70+19C>T
NM_001174146.1:c.139+19C>T	NP_001167617.1:n.139+19C>T
NM_001174147.1:c.139+19C>T	NP_001167618.1:n.139+19C>T
NM_002316.3:c.139+19C>T	NP_002307.2:n.139+19C>T
NM_001174146.2:c.139+19C>T	NP_001167617.1:n.139+19C>T
NM_001174147.2:c.139+19C>T MANE Select	NP_001167618.1:n.139+19C>T
NM_002316.4:c.139+19C>T	NP_002307.2:n.139+19C>T