Canonical Allele Identifier: CA8952762

Gene: LOXHD1

Linked Data

• dbSNP Id: rs754464654
• ExAC: 18:44159629 G / T
• gnomAD v2: 18-44159629-G-T
• gnomAD v4: 18-46579666-G-T
• MyVariant Identifiers: chr18:g.44159629G>T (hg19) ; chr18:g.46579666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579666G>T , CM000680.2:g.46579666G>T	GRCh38
NC_000018.9:g.44159629G>T , CM000680.1:g.44159629G>T	GRCh37
NC_000018.8:g.42413627G>T	NCBI36
NG_016646.1:g.82368C>A
NG_016646.2:g.82368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1773C>A MANE Select	ENSP00000496347.1:p.Asn591Lys
ENST00000335730.6:n.1086C>A
ENST00000441551.6:c.1773C>A	ENSP00000387621.2:p.Asn591Lys
ENST00000536736.5:c.1773C>A	ENSP00000444586.1:p.Asn591Lys
NM_144612.6:c.1773C>A	NP_653213.6:p.Asn591Lys
XM_011525803.1:c.1773C>A	XP_011524105.1:p.Asn591Lys
XM_011525804.1:c.-30-1799C>A	XP_011524106.1:n.-30-1799C>A
XM_011525804.2:c.-30-1799C>A	XP_011524106.1:n.-30-1799C>A
XM_017025548.1:c.1773C>A	XP_016881037.1:p.Asn591Lys
XM_024451084.1:c.255C>A	XP_024306852.1:p.Asn85Lys
NM_001384474.1:c.1773C>A MANE Select	NP_001371403.1:p.Asn591Lys
NM_144612.7:c.1773C>A	NP_653213.6:p.Asn591Lys