Canonical Allele Identifier: CA360881910
Community Standard Title: NM_002317.7(LOX):c.880C>T (p.His294Tyr)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.122074168G>A , CM000667.2:g.122074168G>A GRCh38
NC_000005.9:g.121409863G>A , CM000667.1:g.121409863G>A GRCh37
NC_000005.8:g.121437762G>A NCBI36
NG_008722.1:g.9193C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002317.7:c.880C>T (LOX) MANE Select NP_002308.2:p.His294Tyr
ENST00000231004.5:c.880C>T (LOX) MANE Select ENSP00000231004.4:p.His294Tyr
NM_001178102.1:c.190C>T (LOX) NP_001171573.1:p.His64Tyr
NM_001178102.2:c.190C>T (LOX) NP_001171573.1:p.His64Tyr
NM_001317073.1:c.-12C>T (LOX) NP_001304002.1:n.-12C>T
NM_002317.5:c.880C>T (LOX) NP_002308.2:p.His294Tyr
NM_002317.6:c.880C>T (LOX) NP_002308.2:p.His294Tyr
ENST00000231004.4:c.880C>T (LOX) ENSP00000231004.4:p.His294Tyr
ENST00000503759.5:n.471C>T (LOX)
ENST00000504881.1:n.312-1147G>A (SRFBP1)
ENST00000505593.5:n.206C>T (LOX)
ENST00000508067.1:c.258C>T (LOX) ENSP00000427538.1:n.258C>T
ENST00000513319.5:n.223C>T (LOX)
ENST00000639739.2:c.*72C>T (LOX) ENSP00000492324.2:n.*72C>T
XM_017009111.2:c.1106-1147G>A (SRFBP1) XP_016864600.2:n.1106-1147G>A