Canonical Allele Identifier: CA250570
Gene: LHX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136198798G>A , CM000671.2:g.136198798G>A GRCh38
NC_000009.11:g.139090644G>A , CM000671.1:g.139090644G>A GRCh37
NC_000009.10:g.138230465G>A NCBI36
NG_008097.1:g.11312C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178138.6:c.629C>T MANE Select NP_835258.1:p.Ala210Val
ENST00000371748.10:c.629C>T MANE Select ENSP00000360813.4:p.Ala210Val
NM_001363746.1:c.596C>T NP_001350675.1:p.Ala199Val
NM_014564.3:c.644C>T NP_055379.1:p.Ala215Val
NM_014564.4:c.644C>T NP_055379.1:p.Ala215Val
NM_014564.5:c.644C>T NP_055379.1:p.Ala215Val
NM_178138.4:c.629C>T NP_835258.1:p.Ala210Val
NM_178138.5:c.629C>T NP_835258.1:p.Ala210Val
ENST00000371746.7:c.644C>T ENSP00000360811.3:p.Ala215Val
ENST00000371746.9:c.644C>T ENSP00000360811.3:p.Ala215Val
ENST00000371748.9:c.629C>T ENSP00000360813.4:p.Ala210Val
ENST00000619587.1:c.596C>T ENSP00000483080.1:p.Ala199Val
ENST00000645419.1:n.1454C>T
XM_005263410.1:c.596C>T XP_005263467.1:p.Ala199Val
XM_017015168.1:c.557C>T XP_016870657.1:p.Ala186Val