Canonical Allele Identifier: CA386923731

Gene: LHX5

Linked Data

• ClinVar Variation Id: 3118673
• ClinVar RCV Id: RCV004415037
• gnomAD v4: 12-113469286-C-A
• MyVariant Identifiers: chr12:g.113907091C>A (hg19) ; chr12:g.113469286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.113469286C>A , CM000674.2:g.113469286C>A	GRCh38
NC_000012.11:g.113907091C>A , CM000674.1:g.113907091C>A	GRCh37
NC_000012.10:g.112391474C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261731.4:c.233G>T MANE Select	ENSP00000261731.2:p.Arg78Leu
ENST00000261731.3:c.233G>T	ENSP00000261731.2:p.Arg78Leu
NM_022363.2:c.233G>T	NP_071758.1:p.Arg78Leu
NM_022363.3:c.233G>T MANE Select	NP_071758.1:p.Arg78Leu