Canonical Allele Identifier: CA8952319

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2059368
• ClinVar RCV Id: RCV002933695
• dbSNP Id: rs576255815
• ExAC: 18:44104799 C / T
• gnomAD v2: 18-44104799-C-T
• gnomAD v3: 18-46524836-C-T
• gnomAD v4: 18-46524836-C-T
• COSMIC: COSM1189687 ; COSM1189688
• MyVariant Identifiers: chr18:g.44104799C>T (hg19) ; chr18:g.46524836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524836C>T , CM000680.2:g.46524836C>T	GRCh38
NC_000018.9:g.44104799C>T , CM000680.1:g.44104799C>T	GRCh37
NC_000018.8:g.42358797C>T	NCBI36
NG_016646.1:g.137198G>A
NG_016646.2:g.137198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1279G>A	ENSP00000300591.6:p.Ala427Thr
ENST00000579038.6:c.991G>A	ENSP00000463285.1:p.Ala331Thr
ENST00000582408.6:c.1279G>A	ENSP00000461964.1:p.Ala427Thr
ENST00000642948.1:c.4612G>A MANE Select	ENSP00000496347.1:p.Ala1538Thr
ENST00000300591.10:c.1279G>A	ENSP00000300591.6:p.Ala427Thr
ENST00000335730.6:n.3925G>A
ENST00000441551.6:c.3994G>A	ENSP00000387621.2:p.Ala1332Thr
ENST00000536736.5:c.4612G>A	ENSP00000444586.1:p.Ala1538Thr
ENST00000579038.5:c.991G>A	ENSP00000463285.1:p.Ala331Thr
ENST00000582408.5:c.1279G>A	ENSP00000461964.1:p.Ala427Thr
NM_001145472.2:c.1279G>A	NP_001138944.1:p.Ala427Thr
NM_001308013.1:c.991G>A	NP_001294942.1:p.Ala331Thr
NM_144612.6:c.4612G>A	NP_653213.6:p.Ala1538Thr
XM_006722388.2:c.1411G>A	XP_006722451.1:p.Ala471Thr
XM_006722389.2:c.1279G>A	XP_006722452.1:p.Ala427Thr
XM_006722390.2:c.1279G>A	XP_006722453.1:p.Ala427Thr
XM_006722391.2:c.1411G>A	XP_006722454.1:p.Ala471Thr
XM_011525803.1:c.4612G>A	XP_011524105.1:p.Ala1538Thr
XM_011525804.1:c.2773G>A	XP_011524106.1:p.Ala925Thr
XM_011525805.1:c.1276G>A	XP_011524107.1:p.Ala426Thr
XM_011525806.1:c.991G>A	XP_011524108.1:p.Ala331Thr
XM_011525807.1:c.991G>A	XP_011524109.1:p.Ala331Thr
XM_011525809.1:c.991G>A	XP_011524111.1:p.Ala331Thr
XM_006722388.3:c.1411G>A	XP_006722451.1:p.Ala471Thr
XM_006722389.3:c.1279G>A	XP_006722452.1:p.Ala427Thr
XM_006722390.3:c.1279G>A	XP_006722453.1:p.Ala427Thr
XM_006722391.3:c.1411G>A	XP_006722454.1:p.Ala471Thr
XM_011525804.2:c.2773G>A	XP_011524106.1:p.Ala925Thr
XM_017025548.1:c.3994G>A	XP_016881037.1:p.Ala1332Thr
XM_024451084.1:c.3094G>A	XP_024306852.1:p.Ala1032Thr
XM_024451085.1:c.1276G>A	XP_024306853.1:p.Ala426Thr
XM_024451086.1:c.991G>A	XP_024306854.1:p.Ala331Thr
XM_024451087.1:c.991G>A	XP_024306855.1:p.Ala331Thr
XM_024451088.1:c.991G>A	XP_024306856.1:p.Ala331Thr
NM_001145472.3:c.1279G>A	NP_001138944.1:p.Ala427Thr
NM_001308013.2:c.991G>A	NP_001294942.1:p.Ala331Thr
NM_001384474.1:c.4612G>A MANE Select	NP_001371403.1:p.Ala1538Thr
NM_144612.7:c.4612G>A	NP_653213.6:p.Ala1538Thr