Canonical Allele Identifier: CA402373405

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2134033
• ClinVar RCV Id: RCV003044730
• dbSNP Id: rs189561302
• MyVariant Identifiers: chr18:g.44104800G>T (hg19) ; chr18:g.46524837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524837G>T , CM000680.2:g.46524837G>T	GRCh38
NC_000018.9:g.44104800G>T , CM000680.1:g.44104800G>T	GRCh37
NC_000018.8:g.42358798G>T	NCBI36
NG_016646.1:g.137197C>A
NG_016646.2:g.137197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1278C>A	ENSP00000300591.6:p.Cys426Ter
ENST00000579038.6:c.990C>A	ENSP00000463285.1:p.Cys330Ter
ENST00000582408.6:c.1278C>A	ENSP00000461964.1:p.Cys426Ter
ENST00000642948.1:c.4611C>A MANE Select	ENSP00000496347.1:p.Cys1537Ter
ENST00000300591.10:c.1278C>A	ENSP00000300591.6:p.Cys426Ter
ENST00000335730.6:n.3924C>A
ENST00000441551.6:c.3993C>A	ENSP00000387621.2:p.Cys1331Ter
ENST00000536736.5:c.4611C>A	ENSP00000444586.1:p.Cys1537Ter
ENST00000579038.5:c.990C>A	ENSP00000463285.1:p.Cys330Ter
ENST00000582408.5:c.1278C>A	ENSP00000461964.1:p.Cys426Ter
NM_001145472.2:c.1278C>A	NP_001138944.1:p.Cys426Ter
NM_001308013.1:c.990C>A	NP_001294942.1:p.Cys330Ter
NM_144612.6:c.4611C>A	NP_653213.6:p.Cys1537Ter
XM_006722388.2:c.1410C>A	XP_006722451.1:p.Cys470Ter
XM_006722389.2:c.1278C>A	XP_006722452.1:p.Cys426Ter
XM_006722390.2:c.1278C>A	XP_006722453.1:p.Cys426Ter
XM_006722391.2:c.1410C>A	XP_006722454.1:p.Cys470Ter
XM_011525803.1:c.4611C>A	XP_011524105.1:p.Cys1537Ter
XM_011525804.1:c.2772C>A	XP_011524106.1:p.Cys924Ter
XM_011525805.1:c.1275C>A	XP_011524107.1:p.Cys425Ter
XM_011525806.1:c.990C>A	XP_011524108.1:p.Cys330Ter
XM_011525807.1:c.990C>A	XP_011524109.1:p.Cys330Ter
XM_011525809.1:c.990C>A	XP_011524111.1:p.Cys330Ter
XM_006722388.3:c.1410C>A	XP_006722451.1:p.Cys470Ter
XM_006722389.3:c.1278C>A	XP_006722452.1:p.Cys426Ter
XM_006722390.3:c.1278C>A	XP_006722453.1:p.Cys426Ter
XM_006722391.3:c.1410C>A	XP_006722454.1:p.Cys470Ter
XM_011525804.2:c.2772C>A	XP_011524106.1:p.Cys924Ter
XM_017025548.1:c.3993C>A	XP_016881037.1:p.Cys1331Ter
XM_024451084.1:c.3093C>A	XP_024306852.1:p.Cys1031Ter
XM_024451085.1:c.1275C>A	XP_024306853.1:p.Cys425Ter
XM_024451086.1:c.990C>A	XP_024306854.1:p.Cys330Ter
XM_024451087.1:c.990C>A	XP_024306855.1:p.Cys330Ter
XM_024451088.1:c.990C>A	XP_024306856.1:p.Cys330Ter
NM_001145472.3:c.1278C>A	NP_001138944.1:p.Cys426Ter
NM_001308013.2:c.990C>A	NP_001294942.1:p.Cys330Ter
NM_001384474.1:c.4611C>A MANE Select	NP_001371403.1:p.Cys1537Ter
NM_144612.7:c.4611C>A	NP_653213.6:p.Cys1537Ter