Canonical Allele Identifier: CA125948595

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122074049G>A , CM000667.2:g.122074049G>A GRCh38
NC_000005.9:g.121409744G>A , CM000667.1:g.121409744G>A GRCh37
NC_000005.8:g.121437643G>A NCBI36
NG_008722.1:g.9312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231004.5:c.999C>T (LOX) MANE Select ENSP00000231004.4:p.Gly333=
ENST00000639739.2:c.*191C>T (LOX) ENSP00000492324.2:n.*191C>T
ENST00000231004.4:c.999C>T (LOX) ENSP00000231004.4:p.Gly333=
ENST00000503759.5:n.590C>T (LOX)
ENST00000504881.1:n.312-1266G>A (SRFBP1)
ENST00000505593.5:n.325C>T (LOX)
ENST00000508067.1:c.377C>T (LOX) ENSP00000427538.1:n.377C>T
ENST00000513319.5:n.342C>T (LOX)
NM_001178102.1:c.309C>T (LOX) NP_001171573.1:p.Gly103=
NM_001178102.2:c.309C>T (LOX) NP_001171573.1:p.Gly103=
NM_001317073.1:c.108C>T (LOX) NP_001304002.1:p.Gly36=
NM_002317.5:c.999C>T (LOX) NP_002308.2:p.Gly333=
NM_002317.6:c.999C>T (LOX) NP_002308.2:p.Gly333=
XM_017009111.2:c.1106-1266G>A (SRFBP1) XP_016864600.2:n.1106-1266G>A
NM_002317.7:c.999C>T (LOX) MANE Select NP_002308.2:p.Gly333=