Canonical Allele Identifier: CA402378858
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3119591
ClinVar RCV Id: RCV004410414
dbSNP Id: rs918726548

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579631T>C , CM000680.2:g.46579631T>C GRCh38
NC_000018.9:g.44159594T>C , CM000680.1:g.44159594T>C GRCh37
NC_000018.8:g.42413592T>C NCBI36
NG_016646.1:g.82403A>G
NG_016646.2:g.82403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1808A>G MANE Select ENSP00000496347.1:p.Asn603Ser
ENST00000335730.6:n.1121A>G
ENST00000441551.6:c.1808A>G ENSP00000387621.2:p.Asn603Ser
ENST00000536736.5:c.1808A>G ENSP00000444586.1:p.Asn603Ser
NM_144612.6:c.1808A>G NP_653213.6:p.Asn603Ser
XM_011525803.1:c.1808A>G XP_011524105.1:p.Asn603Ser
XM_011525804.1:c.-30-1764A>G XP_011524106.1:n.-30-1764A>G
XM_011525804.2:c.-30-1764A>G XP_011524106.1:n.-30-1764A>G
XM_017025548.1:c.1808A>G XP_016881037.1:p.Asn603Ser
XM_024451084.1:c.290A>G XP_024306852.1:p.Asn97Ser
NM_001384474.1:c.1808A>G MANE Select NP_001371403.1:p.Asn603Ser
NM_144612.7:c.1808A>G NP_653213.6:p.Asn603Ser