Canonical Allele Identifier: CA8952006
Community Standard Title: NM_001384474.1(LOXHD1):c.*19C>T
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46477453G>A , CM000680.2:g.46477453G>A GRCh38
NC_000018.9:g.44057416G>A , CM000680.1:g.44057416G>A GRCh37
NC_000018.8:g.42311414G>A NCBI36
NG_016646.1:g.184581C>T
NG_016646.2:g.184581C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.*19C>T MANE Select NP_001371403.1:n.*19C>T
ENST00000642948.1:c.*19C>T MANE Select ENSP00000496347.1:n.*19C>T
NM_001145472.2:c.3307+201C>T NP_001138944.1:n.3307+201C>T
NM_001145472.3:c.3307+201C>T NP_001138944.1:n.3307+201C>T
NM_001145473.2:c.*19C>T NP_001138945.1:n.*19C>T
NM_001145473.3:c.*19C>T NP_001138945.1:n.*19C>T
NM_001173129.1:c.1371+187C>T NP_001166600.1:n.1371+187C>T
NM_001173129.2:c.1371+187C>T NP_001166600.1:n.1371+187C>T
NM_001308013.1:c.3033+187C>T NP_001294942.1:n.3033+187C>T
NM_001308013.2:c.3033+187C>T NP_001294942.1:n.3033+187C>T
NM_144612.6:c.6655C>T NP_653213.6:n.6655C>T
NM_144612.7:c.*19C>T NP_653213.6:n.*19C>T
ENST00000300591.10:c.3307+201C>T ENSP00000300591.6:n.3307+201C>T
ENST00000300591.11:c.3307+201C>T ENSP00000300591.6:n.3307+201C>T
ENST00000398686.8:c.*19C>T ENSP00000381676.4:n.*19C>T
ENST00000398705.6:c.1371+187C>T ENSP00000381692.2:n.1371+187C>T
ENST00000398705.7:c.1371+187C>T ENSP00000381692.2:n.1371+187C>T
ENST00000441551.6:c.6223C>T ENSP00000387621.2:n.6223C>T
ENST00000536736.5:c.6655C>T ENSP00000444586.1:n.6655C>T
ENST00000579038.5:c.3033+187C>T ENSP00000463285.1:n.3033+187C>T
ENST00000579038.6:c.3033+187C>T ENSP00000463285.1:n.3033+187C>T
ENST00000582408.5:c.*19C>T ENSP00000461964.1:n.*19C>T
ENST00000582408.6:c.*19C>T ENSP00000461964.1:n.*19C>T
XM_006722388.2:c.*19C>T XP_006722451.1:n.*19C>T
XM_006722388.3:c.*19C>T XP_006722451.1:n.*19C>T
XM_006722389.2:c.*19C>T XP_006722452.1:n.*19C>T
XM_006722389.3:c.*19C>T XP_006722452.1:n.*19C>T
XM_006722390.2:c.*19C>T XP_006722453.1:n.*19C>T
XM_006722390.3:c.*19C>T XP_006722453.1:n.*19C>T
XM_006722391.2:c.*19C>T XP_006722454.1:n.*19C>T
XM_006722391.3:c.*19C>T XP_006722454.1:n.*19C>T
XM_011525803.1:c.*19C>T XP_011524105.1:n.*19C>T
XM_011525804.1:c.*19C>T XP_011524106.1:n.*19C>T
XM_011525804.2:c.*19C>T XP_011524106.1:n.*19C>T
XM_011525805.1:c.*19C>T XP_011524107.1:n.*19C>T
XM_011525806.1:c.*19C>T XP_011524108.1:n.*19C>T
XM_011525807.1:c.*19C>T XP_011524109.1:n.*19C>T
XM_011525809.1:c.*19C>T XP_011524111.1:n.*19C>T
XM_011525810.1:c.*19C>T XP_011524112.1:n.*19C>T
XM_011525810.2:c.*19C>T XP_011524112.1:n.*19C>T
XM_011525811.1:c.*19C>T XP_011524113.1:n.*19C>T
XM_011525811.2:c.*19C>T XP_011524113.1:n.*19C>T
XM_017025548.1:c.*19C>T XP_016881037.1:n.*19C>T
XM_024451084.1:c.*19C>T XP_024306852.1:n.*19C>T
XM_024451085.1:c.*19C>T XP_024306853.1:n.*19C>T
XM_024451086.1:c.*19C>T XP_024306854.1:n.*19C>T
XM_024451087.1:c.*19C>T XP_024306855.1:n.*19C>T
XM_024451088.1:c.*19C>T XP_024306856.1:n.*19C>T