Canonical Allele Identifier: CA6807877

Gene: LHX5

Linked Data

• ClinVar Variation Id: 2508064
• ClinVar RCV Id: RCV004283647
• dbSNP Id: rs187656376
• ExAC: 12:113901114 T / C
• gnomAD v2: 12-113901114-T-C
• gnomAD v3: 12-113463309-T-C
• gnomAD v4: 12-113463309-T-C
• MyVariant Identifiers: chr12:g.113901114T>C (hg19) ; chr12:g.113463309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.113463309T>C , CM000674.2:g.113463309T>C	GRCh38
NC_000012.11:g.113901114T>C , CM000674.1:g.113901114T>C	GRCh37
NC_000012.10:g.112385497T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261731.4:c.1090A>G MANE Select	ENSP00000261731.2:p.Met364Val
ENST00000261731.3:c.1090A>G	ENSP00000261731.2:p.Met364Val
NM_022363.2:c.1090A>G	NP_071758.1:p.Met364Val
NM_022363.3:c.1090A>G MANE Select	NP_071758.1:p.Met364Val