Canonical Allele Identifier: CA1728816

Gene: LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74534630C>T , CM000664.2:g.74534630C>T	GRCh38
NC_000002.11:g.74761757C>T , CM000664.1:g.74761757C>T	GRCh37
NC_000002.10:g.74615265C>T	NCBI36
NG_012163.1:g.10226C>T
NG_033037.1:g.218G>A
NG_033047.1:g.24306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264094.8:c.1724G>A MANE Select	ENSP00000264094.3:p.Arg575Gln
ENST00000264094.7:c.1724G>A	ENSP00000264094.3:p.Arg575Gln
ENST00000393937.6:c.1289G>A	ENSP00000377512.2:p.Arg430Gln
ENST00000409249.5:c.1094-394G>A	ENSP00000387103.1:n.1094-394G>A
ENST00000409549.5:c.1556G>A	ENSP00000386696.1:p.Arg519Gln
ENST00000409986.5:c.1289G>A	ENSP00000386545.1:p.Arg430Gln
ENST00000470907.6:n.1107G>A
NM_001289164.1:c.1289G>A	NP_001276093.1:p.Arg430Gln
NM_001289165.1:c.641G>A	NP_001276094.1:p.Arg214Gln
NM_032603.3:c.1724G>A	NP_115992.1:p.Arg575Gln
XM_011533134.1:c.1724G>A	XP_011531436.1:p.Arg575Gln
NM_001289164.2:c.1289G>A	NP_001276093.1:p.Arg430Gln
NM_032603.4:c.1724G>A	NP_115992.1:p.Arg575Gln
XM_011533134.2:c.1724G>A	XP_011531436.1:p.Arg575Gln
XM_017005112.1:c.641G>A	XP_016860601.1:p.Arg214Gln
XM_024453176.1:c.1724G>A	XP_024308944.1:p.Arg575Gln
XM_024453177.1:c.1724G>A	XP_024308945.1:p.Arg575Gln
XM_024453178.1:c.1724G>A	XP_024308946.1:p.Arg575Gln
NM_032603.5:c.1724G>A MANE Select	NP_115992.1:p.Arg575Gln
NM_001289164.3:c.1289G>A	NP_001276093.1:p.Arg430Gln
NM_001289165.2:c.641G>A	NP_001276094.1:p.Arg214Gln