Canonical Allele Identifier: CA503817003

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46579765-A-C
• MyVariant Identifiers: chr18:g.44159728A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579765A>C , CM000680.2:g.46579765A>C	GRCh38
NC_000018.9:g.44159728A>C , CM000680.1:g.44159728A>C	GRCh37
NC_000018.8:g.42413726A>C	NCBI36
NG_016646.1:g.82269T>G
NG_016646.2:g.82269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1674T>G MANE Select	ENSP00000496347.1:p.Thr558=
ENST00000335730.6:n.987T>G
ENST00000441551.6:c.1674T>G	ENSP00000387621.2:p.Thr558=
ENST00000536736.5:c.1674T>G	ENSP00000444586.1:p.Thr558=
NM_144612.6:c.1674T>G	NP_653213.6:p.Thr558=
XM_011525803.1:c.1674T>G	XP_011524105.1:p.Thr558=
XM_011525804.1:c.-30-1898T>G	XP_011524106.1:n.-30-1898T>G
XM_011525804.2:c.-30-1898T>G	XP_011524106.1:n.-30-1898T>G
XM_017025548.1:c.1674T>G	XP_016881037.1:p.Thr558=
XM_024451084.1:c.156T>G	XP_024306852.1:p.Thr52=
NM_001384474.1:c.1674T>G MANE Select	NP_001371403.1:p.Thr558=
NM_144612.7:c.1674T>G	NP_653213.6:p.Thr558=