Canonical Allele Identifier: CA402376427

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46572136-C-G
• MyVariant Identifiers: chr18:g.44152099C>G (hg19) ; chr18:g.46572136C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.1997G>C MANE Select	ENSP00000496347.1:p.Gly666Ala
ENST00000335730.6:n.1310G>C
ENST00000441551.6:c.1997G>C	ENSP00000387621.2:p.Gly666Ala
ENST00000536736.5:c.1997G>C	ENSP00000444586.1:p.Gly666Ala
NM_144612.6:c.1997G>C	NP_653213.6:p.Gly666Ala
XM_011525803.1:c.1997G>C	XP_011524105.1:p.Gly666Ala
XM_011525804.1:c.158G>C	XP_011524106.1:p.Gly53Ala
XM_011525804.2:c.158G>C	XP_011524106.1:p.Gly53Ala
XM_017025548.1:c.1997G>C	XP_016881037.1:p.Gly666Ala
XM_024451084.1:c.479G>C	XP_024306852.1:p.Gly160Ala
NM_001384474.1:c.1997G>C MANE Select	NP_001371403.1:p.Gly666Ala
NM_144612.7:c.1997G>C	NP_653213.6:p.Gly666Ala