Canonical Allele Identifier: CA8952727

Gene: LOXHD1

Linked Data

• dbSNP Id: rs758612664
• ExAC: 18:44152099 C / T
• gnomAD v2: 18-44152099-C-T
• gnomAD v3: 18-46572136-C-T
• gnomAD v4: 18-46572136-C-T
• MyVariant Identifiers: chr18:g.44152099C>T (hg19) ; chr18:g.46572136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572136C>T , CM000680.2:g.46572136C>T	GRCh38
NC_000018.9:g.44152099C>T , CM000680.1:g.44152099C>T	GRCh37
NC_000018.8:g.42406097C>T	NCBI36
NG_016646.1:g.89898G>A
NG_016646.2:g.89898G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.1997G>A MANE Select	ENSP00000496347.1:p.Gly666Glu
ENST00000335730.6:n.1310G>A
ENST00000441551.6:c.1997G>A	ENSP00000387621.2:p.Gly666Glu
ENST00000536736.5:c.1997G>A	ENSP00000444586.1:p.Gly666Glu
NM_144612.6:c.1997G>A	NP_653213.6:p.Gly666Glu
XM_011525803.1:c.1997G>A	XP_011524105.1:p.Gly666Glu
XM_011525804.1:c.158G>A	XP_011524106.1:p.Gly53Glu
XM_011525804.2:c.158G>A	XP_011524106.1:p.Gly53Glu
XM_017025548.1:c.1997G>A	XP_016881037.1:p.Gly666Glu
XM_024451084.1:c.479G>A	XP_024306852.1:p.Gly160Glu
NM_001384474.1:c.1997G>A MANE Select	NP_001371403.1:p.Gly666Glu
NM_144612.7:c.1997G>A	NP_653213.6:p.Gly666Glu