Canonical Allele Identifier: CA402373187
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46524743C>G , CM000680.2:g.46524743C>G GRCh38
NC_000018.9:g.44104706C>G , CM000680.1:g.44104706C>G GRCh37
NC_000018.8:g.42358704C>G NCBI36
NG_016646.1:g.137291G>C
NG_016646.2:g.137291G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300591.11:c.1372G>C ENSP00000300591.6:p.Glu458Gln
ENST00000579038.6:c.1084G>C ENSP00000463285.1:p.Glu362Gln
ENST00000582408.6:c.1372G>C ENSP00000461964.1:p.Glu458Gln
ENST00000642948.1:c.4705G>C MANE Select ENSP00000496347.1:p.Glu1569Gln
ENST00000300591.10:c.1372G>C ENSP00000300591.6:p.Glu458Gln
ENST00000335730.6:n.4018G>C
ENST00000441551.6:c.4087G>C ENSP00000387621.2:p.Glu1363Gln
ENST00000536736.5:c.4705G>C ENSP00000444586.1:p.Glu1569Gln
ENST00000579038.5:c.1084G>C ENSP00000463285.1:p.Glu362Gln
ENST00000582408.5:c.1372G>C ENSP00000461964.1:p.Glu458Gln
NM_001145472.2:c.1372G>C NP_001138944.1:p.Glu458Gln
NM_001308013.1:c.1084G>C NP_001294942.1:p.Glu362Gln
NM_144612.6:c.4705G>C NP_653213.6:p.Glu1569Gln
XM_006722388.2:c.1504G>C XP_006722451.1:p.Glu502Gln
XM_006722389.2:c.1372G>C XP_006722452.1:p.Glu458Gln
XM_006722390.2:c.1372G>C XP_006722453.1:p.Glu458Gln
XM_006722391.2:c.1504G>C XP_006722454.1:p.Glu502Gln
XM_011525803.1:c.4705G>C XP_011524105.1:p.Glu1569Gln
XM_011525804.1:c.2866G>C XP_011524106.1:p.Glu956Gln
XM_011525805.1:c.1369G>C XP_011524107.1:p.Glu457Gln
XM_011525806.1:c.1084G>C XP_011524108.1:p.Glu362Gln
XM_011525807.1:c.1084G>C XP_011524109.1:p.Glu362Gln
XM_011525809.1:c.1084G>C XP_011524111.1:p.Glu362Gln
XM_006722388.3:c.1504G>C XP_006722451.1:p.Glu502Gln
XM_006722389.3:c.1372G>C XP_006722452.1:p.Glu458Gln
XM_006722390.3:c.1372G>C XP_006722453.1:p.Glu458Gln
XM_006722391.3:c.1504G>C XP_006722454.1:p.Glu502Gln
XM_011525804.2:c.2866G>C XP_011524106.1:p.Glu956Gln
XM_017025548.1:c.4087G>C XP_016881037.1:p.Glu1363Gln
XM_024451084.1:c.3187G>C XP_024306852.1:p.Glu1063Gln
XM_024451085.1:c.1369G>C XP_024306853.1:p.Glu457Gln
XM_024451086.1:c.1084G>C XP_024306854.1:p.Glu362Gln
XM_024451087.1:c.1084G>C XP_024306855.1:p.Glu362Gln
XM_024451088.1:c.1084G>C XP_024306856.1:p.Glu362Gln
NM_001145472.3:c.1372G>C NP_001138944.1:p.Glu458Gln
NM_001308013.2:c.1084G>C NP_001294942.1:p.Glu362Gln
NM_001384474.1:c.4705G>C MANE Select NP_001371403.1:p.Glu1569Gln
NM_144612.7:c.4705G>C NP_653213.6:p.Glu1569Gln