Canonical Allele Identifier: CA375518787

Gene: LHX3

Linked Data

• dbSNP Id: rs1346228119
• gnomAD v2: 9-139089406-G-A
• gnomAD v4: 9-136197560-G-A
• MyVariant Identifiers: chr9:g.139089406G>A (hg19) ; chr9:g.136197560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197560G>A , CM000671.2:g.136197560G>A	GRCh38
NC_000009.11:g.139089406G>A , CM000671.1:g.139089406G>A	GRCh37
NC_000009.10:g.138229227G>A	NCBI36
NG_008097.1:g.12550C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.974C>T	ENSP00000360811.3:p.Ser325Phe
ENST00000371748.10:c.959C>T MANE Select	ENSP00000360813.4:p.Ser320Phe
ENST00000645419.1:n.1784C>T
ENST00000371746.7:c.974C>T	ENSP00000360811.3:p.Ser325Phe
ENST00000371748.9:c.959C>T	ENSP00000360813.4:p.Ser320Phe
ENST00000619587.1:c.926C>T	ENSP00000483080.1:p.Ser309Phe
NM_014564.3:c.974C>T	NP_055379.1:p.Ser325Phe
NM_178138.4:c.959C>T	NP_835258.1:p.Ser320Phe
XM_005263410.1:c.926C>T	XP_005263467.1:p.Ser309Phe
NM_001363746.1:c.926C>T	NP_001350675.1:p.Ser309Phe
NM_014564.4:c.974C>T	NP_055379.1:p.Ser325Phe
NM_178138.5:c.959C>T	NP_835258.1:p.Ser320Phe
XM_017015168.1:c.887C>T	XP_016870657.1:p.Ser296Phe
NM_178138.6:c.959C>T MANE Select	NP_835258.1:p.Ser320Phe
NM_014564.5:c.974C>T	NP_055379.1:p.Ser325Phe