Canonical Allele Identifier: CA347395866

Gene: LOXL3 DOK1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74550322A>C , CM000664.2:g.74550322A>C	GRCh38
NC_000002.11:g.74777449A>C , CM000664.1:g.74777449A>C	GRCh37
NC_000002.10:g.74630957A>C	NCBI36
NG_033047.1:g.8614T>G
NG_050617.1:g.7118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264094.8:c.340T>G (LOXL3) MANE Select	ENSP00000264094.3:p.Cys114Gly
ENST00000264094.7:c.340T>G (LOXL3)	ENSP00000264094.3:p.Cys114Gly
ENST00000393937.6:c.340T>G (LOXL3)	ENSP00000377512.2:p.Cys114Gly
ENST00000409249.5:c.340T>G (LOXL3)	ENSP00000387103.1:p.Cys114Gly
ENST00000409429.5:c.-358+1150A>C (DOK1)	ENSP00000387016.1:n.-358+1150A>C
ENST00000409549.5:c.340T>G (LOXL3)	ENSP00000386696.1:p.Cys114Gly
ENST00000409986.5:c.340T>G (LOXL3)	ENSP00000386545.1:p.Cys114Gly
ENST00000413469.1:c.340T>G (LOXL3)	ENSP00000398260.1:p.Cys114Gly
ENST00000484369.1:n.353T>G (LOXL3)
ENST00000485132.1:n.261+751A>C (DOK1)
NM_001197260.1:c.-358+1150A>C (DOK1)	NP_001184189.1:n.-358+1150A>C
NM_001289164.1:c.340T>G (LOXL3)	NP_001276093.1:p.Cys114Gly
NM_032603.3:c.340T>G (LOXL3)	NP_115992.1:p.Cys114Gly
XM_011532670.1:c.450+1150A>C (DOK1)	XP_011530972.1:n.450+1150A>C
XM_011533134.1:c.340T>G (LOXL3)	XP_011531436.1:p.Cys114Gly
NM_001289164.2:c.340T>G (LOXL3)	NP_001276093.1:p.Cys114Gly
NM_032603.4:c.340T>G (LOXL3)	NP_115992.1:p.Cys114Gly
XM_011533134.2:c.340T>G (LOXL3)	XP_011531436.1:p.Cys114Gly
XM_017005112.1:c.-524T>G (LOXL3)	XP_016860601.1:n.-524T>G
XM_024453176.1:c.340T>G (LOXL3)	XP_024308944.1:p.Cys114Gly
XM_024453177.1:c.340T>G (LOXL3)	XP_024308945.1:p.Cys114Gly
XM_024453178.1:c.340T>G (LOXL3)	XP_024308946.1:p.Cys114Gly
NM_032603.5:c.340T>G (LOXL3) MANE Select	NP_115992.1:p.Cys114Gly
NM_001289164.3:c.340T>G (LOXL3)	NP_001276093.1:p.Cys114Gly
NM_001197260.2:c.-358+1150A>C (DOK1)	NP_001184189.1:n.-358+1150A>C