Canonical Allele Identifier: CA503809440

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1235962975
• gnomAD v2: 18-44104737-G-A
• MyVariant Identifiers: chr18:g.44104737G>A (hg19) ; chr18:g.46524774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524774G>A , CM000680.2:g.46524774G>A	GRCh38
NC_000018.9:g.44104737G>A , CM000680.1:g.44104737G>A	GRCh37
NC_000018.8:g.42358735G>A	NCBI36
NG_016646.1:g.137260C>T
NG_016646.2:g.137260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1341C>T	ENSP00000300591.6:p.Phe447=
ENST00000579038.6:c.1053C>T	ENSP00000463285.1:p.Phe351=
ENST00000582408.6:c.1341C>T	ENSP00000461964.1:p.Phe447=
ENST00000642948.1:c.4674C>T MANE Select	ENSP00000496347.1:p.Phe1558=
ENST00000300591.10:c.1341C>T	ENSP00000300591.6:p.Phe447=
ENST00000335730.6:n.3987C>T
ENST00000441551.6:c.4056C>T	ENSP00000387621.2:p.Phe1352=
ENST00000536736.5:c.4674C>T	ENSP00000444586.1:p.Phe1558=
ENST00000579038.5:c.1053C>T	ENSP00000463285.1:p.Phe351=
ENST00000582408.5:c.1341C>T	ENSP00000461964.1:p.Phe447=
NM_001145472.2:c.1341C>T	NP_001138944.1:p.Phe447=
NM_001308013.1:c.1053C>T	NP_001294942.1:p.Phe351=
NM_144612.6:c.4674C>T	NP_653213.6:p.Phe1558=
XM_006722388.2:c.1473C>T	XP_006722451.1:p.Phe491=
XM_006722389.2:c.1341C>T	XP_006722452.1:p.Phe447=
XM_006722390.2:c.1341C>T	XP_006722453.1:p.Phe447=
XM_006722391.2:c.1473C>T	XP_006722454.1:p.Phe491=
XM_011525803.1:c.4674C>T	XP_011524105.1:p.Phe1558=
XM_011525804.1:c.2835C>T	XP_011524106.1:p.Phe945=
XM_011525805.1:c.1338C>T	XP_011524107.1:p.Phe446=
XM_011525806.1:c.1053C>T	XP_011524108.1:p.Phe351=
XM_011525807.1:c.1053C>T	XP_011524109.1:p.Phe351=
XM_011525809.1:c.1053C>T	XP_011524111.1:p.Phe351=
XM_006722388.3:c.1473C>T	XP_006722451.1:p.Phe491=
XM_006722389.3:c.1341C>T	XP_006722452.1:p.Phe447=
XM_006722390.3:c.1341C>T	XP_006722453.1:p.Phe447=
XM_006722391.3:c.1473C>T	XP_006722454.1:p.Phe491=
XM_011525804.2:c.2835C>T	XP_011524106.1:p.Phe945=
XM_017025548.1:c.4056C>T	XP_016881037.1:p.Phe1352=
XM_024451084.1:c.3156C>T	XP_024306852.1:p.Phe1052=
XM_024451085.1:c.1338C>T	XP_024306853.1:p.Phe446=
XM_024451086.1:c.1053C>T	XP_024306854.1:p.Phe351=
XM_024451087.1:c.1053C>T	XP_024306855.1:p.Phe351=
XM_024451088.1:c.1053C>T	XP_024306856.1:p.Phe351=
NM_001145472.3:c.1341C>T	NP_001138944.1:p.Phe447=
NM_001308013.2:c.1053C>T	NP_001294942.1:p.Phe351=
NM_001384474.1:c.4674C>T MANE Select	NP_001371403.1:p.Phe1558=
NM_144612.7:c.4674C>T	NP_653213.6:p.Phe1558=