Canonical Allele Identifier: CA244029968

Gene: LHX5

Linked Data

• dbSNP Id: rs1002750147
• gnomAD v2: 12-113905130-T-A
• gnomAD v4: 12-113467325-T-A
• MyVariant Identifiers: chr12:g.113905130T>A (hg19) ; chr12:g.113467325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.113467325T>A , CM000674.2:g.113467325T>A	GRCh38
NC_000012.11:g.113905130T>A , CM000674.1:g.113905130T>A	GRCh37
NC_000012.10:g.112389513T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261731.4:c.772A>T MANE Select	ENSP00000261731.2:p.Met258Leu
ENST00000261731.3:c.772A>T	ENSP00000261731.2:p.Met258Leu
NM_022363.2:c.772A>T	NP_071758.1:p.Met258Leu
NM_022363.3:c.772A>T MANE Select	NP_071758.1:p.Met258Leu