Canonical Allele Identifier: CA402373343

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2143476
• ClinVar RCV Id: RCV003076746
• dbSNP Id: rs1453084551
• gnomAD v2: 18-44104774-T-G
• gnomAD v4: 18-46524811-T-G
• MyVariant Identifiers: chr18:g.44104774T>G (hg19) ; chr18:g.46524811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524811T>G , CM000680.2:g.46524811T>G	GRCh38
NC_000018.9:g.44104774T>G , CM000680.1:g.44104774T>G	GRCh37
NC_000018.8:g.42358772T>G	NCBI36
NG_016646.1:g.137223A>C
NG_016646.2:g.137223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1304A>C	ENSP00000300591.6:p.Glu435Ala
ENST00000579038.6:c.1016A>C	ENSP00000463285.1:p.Glu339Ala
ENST00000582408.6:c.1304A>C	ENSP00000461964.1:p.Glu435Ala
ENST00000642948.1:c.4637A>C MANE Select	ENSP00000496347.1:p.Glu1546Ala
ENST00000300591.10:c.1304A>C	ENSP00000300591.6:p.Glu435Ala
ENST00000335730.6:n.3950A>C
ENST00000441551.6:c.4019A>C	ENSP00000387621.2:p.Glu1340Ala
ENST00000536736.5:c.4637A>C	ENSP00000444586.1:p.Glu1546Ala
ENST00000579038.5:c.1016A>C	ENSP00000463285.1:p.Glu339Ala
ENST00000582408.5:c.1304A>C	ENSP00000461964.1:p.Glu435Ala
NM_001145472.2:c.1304A>C	NP_001138944.1:p.Glu435Ala
NM_001308013.1:c.1016A>C	NP_001294942.1:p.Glu339Ala
NM_144612.6:c.4637A>C	NP_653213.6:p.Glu1546Ala
XM_006722388.2:c.1436A>C	XP_006722451.1:p.Glu479Ala
XM_006722389.2:c.1304A>C	XP_006722452.1:p.Glu435Ala
XM_006722390.2:c.1304A>C	XP_006722453.1:p.Glu435Ala
XM_006722391.2:c.1436A>C	XP_006722454.1:p.Glu479Ala
XM_011525803.1:c.4637A>C	XP_011524105.1:p.Glu1546Ala
XM_011525804.1:c.2798A>C	XP_011524106.1:p.Glu933Ala
XM_011525805.1:c.1301A>C	XP_011524107.1:p.Glu434Ala
XM_011525806.1:c.1016A>C	XP_011524108.1:p.Glu339Ala
XM_011525807.1:c.1016A>C	XP_011524109.1:p.Glu339Ala
XM_011525809.1:c.1016A>C	XP_011524111.1:p.Glu339Ala
XM_006722388.3:c.1436A>C	XP_006722451.1:p.Glu479Ala
XM_006722389.3:c.1304A>C	XP_006722452.1:p.Glu435Ala
XM_006722390.3:c.1304A>C	XP_006722453.1:p.Glu435Ala
XM_006722391.3:c.1436A>C	XP_006722454.1:p.Glu479Ala
XM_011525804.2:c.2798A>C	XP_011524106.1:p.Glu933Ala
XM_017025548.1:c.4019A>C	XP_016881037.1:p.Glu1340Ala
XM_024451084.1:c.3119A>C	XP_024306852.1:p.Glu1040Ala
XM_024451085.1:c.1301A>C	XP_024306853.1:p.Glu434Ala
XM_024451086.1:c.1016A>C	XP_024306854.1:p.Glu339Ala
XM_024451087.1:c.1016A>C	XP_024306855.1:p.Glu339Ala
XM_024451088.1:c.1016A>C	XP_024306856.1:p.Glu339Ala
NM_001145472.3:c.1304A>C	NP_001138944.1:p.Glu435Ala
NM_001308013.2:c.1016A>C	NP_001294942.1:p.Glu339Ala
NM_001384474.1:c.4637A>C MANE Select	NP_001371403.1:p.Glu1546Ala
NM_144612.7:c.4637A>C	NP_653213.6:p.Glu1546Ala