Canonical Allele Identifier: CA503985544
Community Standard Title: NM_001384474.1(LOXHD1):c.6639G>T (p.Leu2213=)
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46477655C>A , CM000680.2:g.46477655C>A GRCh38
NC_000018.9:g.44057618C>A , CM000680.1:g.44057618C>A GRCh37
NC_000018.8:g.42311616C>A NCBI36
NG_016646.1:g.184379G>T
NG_016646.2:g.184379G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.6639G>T MANE Select NP_001371403.1:p.Leu2213=
ENST00000642948.1:c.6639G>T MANE Select ENSP00000496347.1:p.Leu2213=
NM_001145472.2:c.3306G>T NP_001138944.1:p.Leu1102=
NM_001145472.3:c.3306G>T NP_001138944.1:p.Leu1102=
NM_001145473.2:c.1356G>T NP_001138945.1:p.Leu452=
NM_001145473.3:c.1356G>T NP_001138945.1:p.Leu452=
NM_001173129.1:c.1356G>T NP_001166600.1:p.Leu452=
NM_001173129.2:c.1356G>T NP_001166600.1:p.Leu452=
NM_001308013.1:c.3018G>T NP_001294942.1:p.Leu1006=
NM_001308013.2:c.3018G>T NP_001294942.1:p.Leu1006=
NM_144612.6:c.6453G>T NP_653213.6:p.Leu2151=
NM_144612.7:c.6453G>T NP_653213.6:p.Leu2151=
ENST00000300591.10:c.3306G>T ENSP00000300591.6:p.Leu1102=
ENST00000300591.11:c.3306G>T ENSP00000300591.6:p.Leu1102=
ENST00000398686.8:c.1356G>T ENSP00000381676.4:p.Leu452=
ENST00000398705.6:c.1356G>T ENSP00000381692.2:p.Leu452=
ENST00000398705.7:c.1356G>T ENSP00000381692.2:p.Leu452=
ENST00000441551.6:c.6021G>T ENSP00000387621.2:p.Leu2007=
ENST00000536736.5:c.6453G>T ENSP00000444586.1:p.Leu2151=
ENST00000579038.5:c.3018G>T ENSP00000463285.1:p.Leu1006=
ENST00000579038.6:c.3018G>T ENSP00000463285.1:p.Leu1006=
ENST00000582408.5:c.3120G>T ENSP00000461964.1:p.Leu1040=
ENST00000582408.6:c.3120G>T ENSP00000461964.1:p.Leu1040=
XM_006722388.2:c.3438G>T XP_006722451.1:p.Leu1146=
XM_006722388.3:c.3438G>T XP_006722451.1:p.Leu1146=
XM_006722389.2:c.3306G>T XP_006722452.1:p.Leu1102=
XM_006722389.3:c.3306G>T XP_006722452.1:p.Leu1102=
XM_006722390.2:c.3306G>T XP_006722453.1:p.Leu1102=
XM_006722390.3:c.3306G>T XP_006722453.1:p.Leu1102=
XM_006722391.2:c.3252G>T XP_006722454.1:p.Leu1084=
XM_006722391.3:c.3252G>T XP_006722454.1:p.Leu1084=
XM_011525803.1:c.6639G>T XP_011524105.1:p.Leu2213=
XM_011525804.1:c.4800G>T XP_011524106.1:p.Leu1600=
XM_011525804.2:c.4800G>T XP_011524106.1:p.Leu1600=
XM_011525805.1:c.3303G>T XP_011524107.1:p.Leu1101=
XM_011525806.1:c.3018G>T XP_011524108.1:p.Leu1006=
XM_011525807.1:c.3018G>T XP_011524109.1:p.Leu1006=
XM_011525809.1:c.3018G>T XP_011524111.1:p.Leu1006=
XM_011525810.1:c.1407G>T XP_011524112.1:p.Leu469=
XM_011525810.2:c.1407G>T XP_011524112.1:p.Leu469=
XM_011525811.1:c.1356G>T XP_011524113.1:p.Leu452=
XM_011525811.2:c.1356G>T XP_011524113.1:p.Leu452=
XM_017025548.1:c.6021G>T XP_016881037.1:p.Leu2007=
XM_024451084.1:c.5121G>T XP_024306852.1:p.Leu1707=
XM_024451085.1:c.3303G>T XP_024306853.1:p.Leu1101=
XM_024451086.1:c.3018G>T XP_024306854.1:p.Leu1006=
XM_024451087.1:c.3018G>T XP_024306855.1:p.Leu1006=
XM_024451088.1:c.3018G>T XP_024306856.1:p.Leu1006=