Canonical Allele Identifier: CA2573155263
Community Standard Title: NM_001384474.1(LOXHD1):c.6684C>T (p.Tyr2228=)
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46477610G>A , CM000680.2:g.46477610G>A GRCh38
NC_000018.9:g.44057573G>A , CM000680.1:g.44057573G>A GRCh37
NC_000018.8:g.42311571G>A NCBI36
NG_016646.1:g.184424C>T
NG_016646.2:g.184424C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.6684C>T MANE Select NP_001371403.1:p.Tyr2228=
ENST00000642948.1:c.6684C>T MANE Select ENSP00000496347.1:p.Tyr2228=
NM_001145472.2:c.3307+44C>T NP_001138944.1:n.3307+44C>T
NM_001145472.3:c.3307+44C>T NP_001138944.1:n.3307+44C>T
NM_001145473.2:c.1401C>T NP_001138945.1:p.Tyr467=
NM_001145473.3:c.1401C>T NP_001138945.1:p.Tyr467=
NM_001173129.1:c.1371+30C>T NP_001166600.1:n.1371+30C>T
NM_001173129.2:c.1371+30C>T NP_001166600.1:n.1371+30C>T
NM_001308013.1:c.3033+30C>T NP_001294942.1:n.3033+30C>T
NM_001308013.2:c.3033+30C>T NP_001294942.1:n.3033+30C>T
NM_144612.6:c.6498C>T NP_653213.6:p.Tyr2166=
NM_144612.7:c.6498C>T NP_653213.6:p.Tyr2166=
ENST00000300591.10:c.3307+44C>T ENSP00000300591.6:n.3307+44C>T
ENST00000300591.11:c.3307+44C>T ENSP00000300591.6:n.3307+44C>T
ENST00000398686.8:c.1401C>T ENSP00000381676.4:p.Tyr467=
ENST00000398705.6:c.1371+30C>T ENSP00000381692.2:n.1371+30C>T
ENST00000398705.7:c.1371+30C>T ENSP00000381692.2:n.1371+30C>T
ENST00000441551.6:c.6066C>T ENSP00000387621.2:p.Tyr2022=
ENST00000536736.5:c.6498C>T ENSP00000444586.1:p.Tyr2166=
ENST00000579038.5:c.3033+30C>T ENSP00000463285.1:n.3033+30C>T
ENST00000579038.6:c.3033+30C>T ENSP00000463285.1:n.3033+30C>T
ENST00000582408.5:c.3165C>T ENSP00000461964.1:p.Tyr1055=
ENST00000582408.6:c.3165C>T ENSP00000461964.1:p.Tyr1055=
XM_006722388.2:c.3483C>T XP_006722451.1:p.Tyr1161=
XM_006722388.3:c.3483C>T XP_006722451.1:p.Tyr1161=
XM_006722389.2:c.3351C>T XP_006722452.1:p.Tyr1117=
XM_006722389.3:c.3351C>T XP_006722452.1:p.Tyr1117=
XM_006722390.2:c.3351C>T XP_006722453.1:p.Tyr1117=
XM_006722390.3:c.3351C>T XP_006722453.1:p.Tyr1117=
XM_006722391.2:c.3297C>T XP_006722454.1:p.Tyr1099=
XM_006722391.3:c.3297C>T XP_006722454.1:p.Tyr1099=
XM_011525803.1:c.6684C>T XP_011524105.1:p.Tyr2228=
XM_011525804.1:c.4845C>T XP_011524106.1:p.Tyr1615=
XM_011525804.2:c.4845C>T XP_011524106.1:p.Tyr1615=
XM_011525805.1:c.3348C>T XP_011524107.1:p.Tyr1116=
XM_011525806.1:c.3063C>T XP_011524108.1:p.Tyr1021=
XM_011525807.1:c.3063C>T XP_011524109.1:p.Tyr1021=
XM_011525809.1:c.3063C>T XP_011524111.1:p.Tyr1021=
XM_011525810.1:c.1452C>T XP_011524112.1:p.Tyr484=
XM_011525810.2:c.1452C>T XP_011524112.1:p.Tyr484=
XM_011525811.1:c.1401C>T XP_011524113.1:p.Tyr467=
XM_011525811.2:c.1401C>T XP_011524113.1:p.Tyr467=
XM_017025548.1:c.6066C>T XP_016881037.1:p.Tyr2022=
XM_024451084.1:c.5166C>T XP_024306852.1:p.Tyr1722=
XM_024451085.1:c.3348C>T XP_024306853.1:p.Tyr1116=
XM_024451086.1:c.3063C>T XP_024306854.1:p.Tyr1021=
XM_024451087.1:c.3063C>T XP_024306855.1:p.Tyr1021=
XM_024451088.1:c.3063C>T XP_024306856.1:p.Tyr1021=