Canonical Allele Identifier: CA402378872
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579638T>C , CM000680.2:g.46579638T>C GRCh38
NC_000018.9:g.44159601T>C , CM000680.1:g.44159601T>C GRCh37
NC_000018.8:g.42413599T>C NCBI36
NG_016646.1:g.82396A>G
NG_016646.2:g.82396A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1801A>G MANE Select ENSP00000496347.1:p.Lys601Glu
ENST00000335730.6:n.1114A>G
ENST00000441551.6:c.1801A>G ENSP00000387621.2:p.Lys601Glu
ENST00000536736.5:c.1801A>G ENSP00000444586.1:p.Lys601Glu
NM_144612.6:c.1801A>G NP_653213.6:p.Lys601Glu
XM_011525803.1:c.1801A>G XP_011524105.1:p.Lys601Glu
XM_011525804.1:c.-30-1771A>G XP_011524106.1:n.-30-1771A>G
XM_011525804.2:c.-30-1771A>G XP_011524106.1:n.-30-1771A>G
XM_017025548.1:c.1801A>G XP_016881037.1:p.Lys601Glu
XM_024451084.1:c.283A>G XP_024306852.1:p.Lys95Glu
NM_001384474.1:c.1801A>G MANE Select NP_001371403.1:p.Lys601Glu
NM_144612.7:c.1801A>G NP_653213.6:p.Lys601Glu