Canonical Allele Identifier: CA347386257

Gene: LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74534692A>C , CM000664.2:g.74534692A>C	GRCh38
NC_000002.11:g.74761819A>C , CM000664.1:g.74761819A>C	GRCh37
NC_000002.10:g.74615327A>C	NCBI36
NG_012163.1:g.10288A>C
NG_033037.1:g.156T>G
NG_033047.1:g.24244T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264094.8:c.1662T>G MANE Select	ENSP00000264094.3:p.Cys554Trp
ENST00000264094.7:c.1662T>G	ENSP00000264094.3:p.Cys554Trp
ENST00000393937.6:c.1227T>G	ENSP00000377512.2:p.Cys409Trp
ENST00000409249.5:c.1094-456T>G	ENSP00000387103.1:n.1094-456T>G
ENST00000409549.5:c.1494T>G	ENSP00000386696.1:p.Cys498Trp
ENST00000409986.5:c.1227T>G	ENSP00000386545.1:p.Cys409Trp
ENST00000470907.6:n.1045T>G
NM_001289164.1:c.1227T>G	NP_001276093.1:p.Cys409Trp
NM_001289165.1:c.579T>G	NP_001276094.1:p.Cys193Trp
NM_032603.3:c.1662T>G	NP_115992.1:p.Cys554Trp
XM_011533134.1:c.1662T>G	XP_011531436.1:p.Cys554Trp
NM_001289164.2:c.1227T>G	NP_001276093.1:p.Cys409Trp
NM_032603.4:c.1662T>G	NP_115992.1:p.Cys554Trp
XM_011533134.2:c.1662T>G	XP_011531436.1:p.Cys554Trp
XM_017005112.1:c.579T>G	XP_016860601.1:p.Cys193Trp
XM_024453176.1:c.1662T>G	XP_024308944.1:p.Cys554Trp
XM_024453177.1:c.1662T>G	XP_024308945.1:p.Cys554Trp
XM_024453178.1:c.1662T>G	XP_024308946.1:p.Cys554Trp
NM_032603.5:c.1662T>G MANE Select	NP_115992.1:p.Cys554Trp
NM_001289164.3:c.1227T>G	NP_001276093.1:p.Cys409Trp
NM_001289165.2:c.579T>G	NP_001276094.1:p.Cys193Trp