Canonical Allele Identifier: CA402378920
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579659T>A , CM000680.2:g.46579659T>A GRCh38
NC_000018.9:g.44159622T>A , CM000680.1:g.44159622T>A GRCh37
NC_000018.8:g.42413620T>A NCBI36
NG_016646.1:g.82375A>T
NG_016646.2:g.82375A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1780A>T MANE Select ENSP00000496347.1:p.Asn594Tyr
ENST00000335730.6:n.1093A>T
ENST00000441551.6:c.1780A>T ENSP00000387621.2:p.Asn594Tyr
ENST00000536736.5:c.1780A>T ENSP00000444586.1:p.Asn594Tyr
NM_144612.6:c.1780A>T NP_653213.6:p.Asn594Tyr
XM_011525803.1:c.1780A>T XP_011524105.1:p.Asn594Tyr
XM_011525804.1:c.-30-1792A>T XP_011524106.1:n.-30-1792A>T
XM_011525804.2:c.-30-1792A>T XP_011524106.1:n.-30-1792A>T
XM_017025548.1:c.1780A>T XP_016881037.1:p.Asn594Tyr
XM_024451084.1:c.262A>T XP_024306852.1:p.Asn88Tyr
NM_001384474.1:c.1780A>T MANE Select NP_001371403.1:p.Asn594Tyr
NM_144612.7:c.1780A>T NP_653213.6:p.Asn594Tyr