Canonical Allele Identifier: CA402378992

Gene: LOXHD1

Linked Data

• MyVariant Identifiers: chr18:g.44159655C>G (hg19) ; chr18:g.46579692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579692C>G , CM000680.2:g.46579692C>G	GRCh38
NC_000018.9:g.44159655C>G , CM000680.1:g.44159655C>G	GRCh37
NC_000018.8:g.42413653C>G	NCBI36
NG_016646.1:g.82342G>C
NG_016646.2:g.82342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1747G>C MANE Select	ENSP00000496347.1:p.Asp583His
ENST00000335730.6:n.1060G>C
ENST00000441551.6:c.1747G>C	ENSP00000387621.2:p.Asp583His
ENST00000536736.5:c.1747G>C	ENSP00000444586.1:p.Asp583His
NM_144612.6:c.1747G>C	NP_653213.6:p.Asp583His
XM_011525803.1:c.1747G>C	XP_011524105.1:p.Asp583His
XM_011525804.1:c.-30-1825G>C	XP_011524106.1:n.-30-1825G>C
XM_011525804.2:c.-30-1825G>C	XP_011524106.1:n.-30-1825G>C
XM_017025548.1:c.1747G>C	XP_016881037.1:p.Asp583His
XM_024451084.1:c.229G>C	XP_024306852.1:p.Asp77His
NM_001384474.1:c.1747G>C MANE Select	NP_001371403.1:p.Asp583His
NM_144612.7:c.1747G>C	NP_653213.6:p.Asp583His