Canonical Allele Identifier: CA375518776

Gene: LHX3

Linked Data

• dbSNP Id: rs965091161
• gnomAD v2: 9-139089398-C-G
• gnomAD v4: 9-136197552-C-G
• MyVariant Identifiers: chr9:g.139089398C>G (hg19) ; chr9:g.136197552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197552C>G , CM000671.2:g.136197552C>G	GRCh38
NC_000009.11:g.139089398C>G , CM000671.1:g.139089398C>G	GRCh37
NC_000009.10:g.138229219C>G	NCBI36
NG_008097.1:g.12558G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.982G>C	ENSP00000360811.3:p.Ala328Pro
ENST00000371748.10:c.967G>C MANE Select	ENSP00000360813.4:p.Ala323Pro
ENST00000645419.1:n.1792G>C
ENST00000371746.7:c.982G>C	ENSP00000360811.3:p.Ala328Pro
ENST00000371748.9:c.967G>C	ENSP00000360813.4:p.Ala323Pro
ENST00000619587.1:c.934G>C	ENSP00000483080.1:p.Ala312Pro
NM_014564.3:c.982G>C	NP_055379.1:p.Ala328Pro
NM_178138.4:c.967G>C	NP_835258.1:p.Ala323Pro
XM_005263410.1:c.934G>C	XP_005263467.1:p.Ala312Pro
NM_001363746.1:c.934G>C	NP_001350675.1:p.Ala312Pro
NM_014564.4:c.982G>C	NP_055379.1:p.Ala328Pro
NM_178138.5:c.967G>C	NP_835258.1:p.Ala323Pro
XM_017015168.1:c.895G>C	XP_016870657.1:p.Ala299Pro
NM_178138.6:c.967G>C MANE Select	NP_835258.1:p.Ala323Pro
NM_014564.5:c.982G>C	NP_055379.1:p.Ala328Pro