Canonical Allele Identifier: CA402370754
Community Standard Title: NM_001384474.1(LOXHD1):c.2879C>G (p.Ser960Ter)
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46560265G>C , CM000680.2:g.46560265G>C GRCh38
NC_000018.9:g.44140228G>C , CM000680.1:g.44140228G>C GRCh37
NC_000018.8:g.42394226G>C NCBI36
NG_016646.1:g.101769C>G
NG_016646.2:g.101769C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.2879C>G MANE Select NP_001371403.1:p.Ser960Ter
ENST00000642948.1:c.2879C>G MANE Select ENSP00000496347.1:p.Ser960Ter
NM_144612.6:c.2879C>G NP_653213.6:p.Ser960Ter
NM_144612.7:c.2879C>G NP_653213.6:p.Ser960Ter
ENST00000335730.6:n.2192C>G
ENST00000441551.6:c.2599-2776C>G ENSP00000387621.2:n.2599-2776C>G
ENST00000536736.5:c.2879C>G ENSP00000444586.1:p.Ser960Ter
XM_011525803.1:c.2879C>G XP_011524105.1:p.Ser960Ter
XM_011525804.1:c.1040C>G XP_011524106.1:p.Ser347Ter
XM_011525804.2:c.1040C>G XP_011524106.1:p.Ser347Ter
XM_017025548.1:c.2599-2776C>G XP_016881037.1:n.2599-2776C>G
XM_024451084.1:c.1361C>G XP_024306852.1:p.Ser454Ter