Canonical Allele Identifier: CA402373245
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46524770A>C , CM000680.2:g.46524770A>C GRCh38
NC_000018.9:g.44104733A>C , CM000680.1:g.44104733A>C GRCh37
NC_000018.8:g.42358731A>C NCBI36
NG_016646.1:g.137264T>G
NG_016646.2:g.137264T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300591.11:c.1345T>G ENSP00000300591.6:p.Cys449Gly
ENST00000579038.6:c.1057T>G ENSP00000463285.1:p.Cys353Gly
ENST00000582408.6:c.1345T>G ENSP00000461964.1:p.Cys449Gly
ENST00000642948.1:c.4678T>G MANE Select ENSP00000496347.1:p.Cys1560Gly
ENST00000300591.10:c.1345T>G ENSP00000300591.6:p.Cys449Gly
ENST00000335730.6:n.3991T>G
ENST00000441551.6:c.4060T>G ENSP00000387621.2:p.Cys1354Gly
ENST00000536736.5:c.4678T>G ENSP00000444586.1:p.Cys1560Gly
ENST00000579038.5:c.1057T>G ENSP00000463285.1:p.Cys353Gly
ENST00000582408.5:c.1345T>G ENSP00000461964.1:p.Cys449Gly
NM_001145472.2:c.1345T>G NP_001138944.1:p.Cys449Gly
NM_001308013.1:c.1057T>G NP_001294942.1:p.Cys353Gly
NM_144612.6:c.4678T>G NP_653213.6:p.Cys1560Gly
XM_006722388.2:c.1477T>G XP_006722451.1:p.Cys493Gly
XM_006722389.2:c.1345T>G XP_006722452.1:p.Cys449Gly
XM_006722390.2:c.1345T>G XP_006722453.1:p.Cys449Gly
XM_006722391.2:c.1477T>G XP_006722454.1:p.Cys493Gly
XM_011525803.1:c.4678T>G XP_011524105.1:p.Cys1560Gly
XM_011525804.1:c.2839T>G XP_011524106.1:p.Cys947Gly
XM_011525805.1:c.1342T>G XP_011524107.1:p.Cys448Gly
XM_011525806.1:c.1057T>G XP_011524108.1:p.Cys353Gly
XM_011525807.1:c.1057T>G XP_011524109.1:p.Cys353Gly
XM_011525809.1:c.1057T>G XP_011524111.1:p.Cys353Gly
XM_006722388.3:c.1477T>G XP_006722451.1:p.Cys493Gly
XM_006722389.3:c.1345T>G XP_006722452.1:p.Cys449Gly
XM_006722390.3:c.1345T>G XP_006722453.1:p.Cys449Gly
XM_006722391.3:c.1477T>G XP_006722454.1:p.Cys493Gly
XM_011525804.2:c.2839T>G XP_011524106.1:p.Cys947Gly
XM_017025548.1:c.4060T>G XP_016881037.1:p.Cys1354Gly
XM_024451084.1:c.3160T>G XP_024306852.1:p.Cys1054Gly
XM_024451085.1:c.1342T>G XP_024306853.1:p.Cys448Gly
XM_024451086.1:c.1057T>G XP_024306854.1:p.Cys353Gly
XM_024451087.1:c.1057T>G XP_024306855.1:p.Cys353Gly
XM_024451088.1:c.1057T>G XP_024306856.1:p.Cys353Gly
NM_001145472.3:c.1345T>G NP_001138944.1:p.Cys449Gly
NM_001308013.2:c.1057T>G NP_001294942.1:p.Cys353Gly
NM_001384474.1:c.4678T>G MANE Select NP_001371403.1:p.Cys1560Gly
NM_144612.7:c.4678T>G NP_653213.6:p.Cys1560Gly