Canonical Allele Identifier: CA503985576
Community Standard Title: NM_001384474.1(LOXHD1):c.6630G>T (p.Thr2210=)
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46477664C>A , CM000680.2:g.46477664C>A GRCh38
NC_000018.9:g.44057627C>A , CM000680.1:g.44057627C>A GRCh37
NC_000018.8:g.42311625C>A NCBI36
NG_016646.1:g.184370G>T
NG_016646.2:g.184370G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.6630G>T MANE Select NP_001371403.1:p.Thr2210=
ENST00000642948.1:c.6630G>T MANE Select ENSP00000496347.1:p.Thr2210=
NM_001145472.2:c.3297G>T NP_001138944.1:p.Thr1099=
NM_001145472.3:c.3297G>T NP_001138944.1:p.Thr1099=
NM_001145473.2:c.1347G>T NP_001138945.1:p.Thr449=
NM_001145473.3:c.1347G>T NP_001138945.1:p.Thr449=
NM_001173129.1:c.1347G>T NP_001166600.1:p.Thr449=
NM_001173129.2:c.1347G>T NP_001166600.1:p.Thr449=
NM_001308013.1:c.3009G>T NP_001294942.1:p.Thr1003=
NM_001308013.2:c.3009G>T NP_001294942.1:p.Thr1003=
NM_144612.6:c.6444G>T NP_653213.6:p.Thr2148=
NM_144612.7:c.6444G>T NP_653213.6:p.Thr2148=
ENST00000300591.10:c.3297G>T ENSP00000300591.6:p.Thr1099=
ENST00000300591.11:c.3297G>T ENSP00000300591.6:p.Thr1099=
ENST00000398686.8:c.1347G>T ENSP00000381676.4:p.Thr449=
ENST00000398705.6:c.1347G>T ENSP00000381692.2:p.Thr449=
ENST00000398705.7:c.1347G>T ENSP00000381692.2:p.Thr449=
ENST00000441551.6:c.6012G>T ENSP00000387621.2:p.Thr2004=
ENST00000536736.5:c.6444G>T ENSP00000444586.1:p.Thr2148=
ENST00000579038.5:c.3009G>T ENSP00000463285.1:p.Thr1003=
ENST00000579038.6:c.3009G>T ENSP00000463285.1:p.Thr1003=
ENST00000582408.5:c.3111G>T ENSP00000461964.1:p.Thr1037=
ENST00000582408.6:c.3111G>T ENSP00000461964.1:p.Thr1037=
XM_006722388.2:c.3429G>T XP_006722451.1:p.Thr1143=
XM_006722388.3:c.3429G>T XP_006722451.1:p.Thr1143=
XM_006722389.2:c.3297G>T XP_006722452.1:p.Thr1099=
XM_006722389.3:c.3297G>T XP_006722452.1:p.Thr1099=
XM_006722390.2:c.3297G>T XP_006722453.1:p.Thr1099=
XM_006722390.3:c.3297G>T XP_006722453.1:p.Thr1099=
XM_006722391.2:c.3243G>T XP_006722454.1:p.Thr1081=
XM_006722391.3:c.3243G>T XP_006722454.1:p.Thr1081=
XM_011525803.1:c.6630G>T XP_011524105.1:p.Thr2210=
XM_011525804.1:c.4791G>T XP_011524106.1:p.Thr1597=
XM_011525804.2:c.4791G>T XP_011524106.1:p.Thr1597=
XM_011525805.1:c.3294G>T XP_011524107.1:p.Thr1098=
XM_011525806.1:c.3009G>T XP_011524108.1:p.Thr1003=
XM_011525807.1:c.3009G>T XP_011524109.1:p.Thr1003=
XM_011525809.1:c.3009G>T XP_011524111.1:p.Thr1003=
XM_011525810.1:c.1398G>T XP_011524112.1:p.Thr466=
XM_011525810.2:c.1398G>T XP_011524112.1:p.Thr466=
XM_011525811.1:c.1347G>T XP_011524113.1:p.Thr449=
XM_011525811.2:c.1347G>T XP_011524113.1:p.Thr449=
XM_017025548.1:c.6012G>T XP_016881037.1:p.Thr2004=
XM_024451084.1:c.5112G>T XP_024306852.1:p.Thr1704=
XM_024451085.1:c.3294G>T XP_024306853.1:p.Thr1098=
XM_024451086.1:c.3009G>T XP_024306854.1:p.Thr1003=
XM_024451087.1:c.3009G>T XP_024306855.1:p.Thr1003=
XM_024451088.1:c.3009G>T XP_024306856.1:p.Thr1003=