Canonical Allele Identifier: CA402373235
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46524766C>A , CM000680.2:g.46524766C>A GRCh38
NC_000018.9:g.44104729C>A , CM000680.1:g.44104729C>A GRCh37
NC_000018.8:g.42358727C>A NCBI36
NG_016646.1:g.137268G>T
NG_016646.2:g.137268G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300591.11:c.1349G>T ENSP00000300591.6:p.Gly450Val
ENST00000579038.6:c.1061G>T ENSP00000463285.1:p.Gly354Val
ENST00000582408.6:c.1349G>T ENSP00000461964.1:p.Gly450Val
ENST00000642948.1:c.4682G>T MANE Select ENSP00000496347.1:p.Gly1561Val
ENST00000300591.10:c.1349G>T ENSP00000300591.6:p.Gly450Val
ENST00000335730.6:n.3995G>T
ENST00000441551.6:c.4064G>T ENSP00000387621.2:p.Gly1355Val
ENST00000536736.5:c.4682G>T ENSP00000444586.1:p.Gly1561Val
ENST00000579038.5:c.1061G>T ENSP00000463285.1:p.Gly354Val
ENST00000582408.5:c.1349G>T ENSP00000461964.1:p.Gly450Val
NM_001145472.2:c.1349G>T NP_001138944.1:p.Gly450Val
NM_001308013.1:c.1061G>T NP_001294942.1:p.Gly354Val
NM_144612.6:c.4682G>T NP_653213.6:p.Gly1561Val
XM_006722388.2:c.1481G>T XP_006722451.1:p.Gly494Val
XM_006722389.2:c.1349G>T XP_006722452.1:p.Gly450Val
XM_006722390.2:c.1349G>T XP_006722453.1:p.Gly450Val
XM_006722391.2:c.1481G>T XP_006722454.1:p.Gly494Val
XM_011525803.1:c.4682G>T XP_011524105.1:p.Gly1561Val
XM_011525804.1:c.2843G>T XP_011524106.1:p.Gly948Val
XM_011525805.1:c.1346G>T XP_011524107.1:p.Gly449Val
XM_011525806.1:c.1061G>T XP_011524108.1:p.Gly354Val
XM_011525807.1:c.1061G>T XP_011524109.1:p.Gly354Val
XM_011525809.1:c.1061G>T XP_011524111.1:p.Gly354Val
XM_006722388.3:c.1481G>T XP_006722451.1:p.Gly494Val
XM_006722389.3:c.1349G>T XP_006722452.1:p.Gly450Val
XM_006722390.3:c.1349G>T XP_006722453.1:p.Gly450Val
XM_006722391.3:c.1481G>T XP_006722454.1:p.Gly494Val
XM_011525804.2:c.2843G>T XP_011524106.1:p.Gly948Val
XM_017025548.1:c.4064G>T XP_016881037.1:p.Gly1355Val
XM_024451084.1:c.3164G>T XP_024306852.1:p.Gly1055Val
XM_024451085.1:c.1346G>T XP_024306853.1:p.Gly449Val
XM_024451086.1:c.1061G>T XP_024306854.1:p.Gly354Val
XM_024451087.1:c.1061G>T XP_024306855.1:p.Gly354Val
XM_024451088.1:c.1061G>T XP_024306856.1:p.Gly354Val
NM_001145472.3:c.1349G>T NP_001138944.1:p.Gly450Val
NM_001308013.2:c.1061G>T NP_001294942.1:p.Gly354Val
NM_001384474.1:c.4682G>T MANE Select NP_001371403.1:p.Gly1561Val
NM_144612.7:c.4682G>T NP_653213.6:p.Gly1561Val