Canonical Allele Identifier: CA426838218

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532832G>C , CM000664.2:g.74532832G>C	GRCh38
NC_000002.11:g.74759959G>C , CM000664.1:g.74759959G>C	GRCh37
NC_000002.10:g.74613467G>C	NCBI36
NG_012163.1:g.8428G>C
NG_033037.1:g.2016C>G
NG_033047.1:g.26104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1158G>C (HTRA2)	ENSP00000399166.2:p.Arg386=
ENST00000462909.6:n.974G>C (HTRA2)
ENST00000465521.2:n.1033G>C (HTRA2)
ENST00000467961.6:n.958G>C (HTRA2)
ENST00000484881.6:n.849G>C (HTRA2)
ENST00000696725.1:n.1107G>C (HTRA2)
ENST00000696726.1:n.756G>C (HTRA2)
ENST00000696727.1:c.1128G>C (HTRA2)	ENSP00000512836.1:p.Arg376=
ENST00000696728.1:c.*131G>C (HTRA2)	ENSP00000512837.1:n.*131G>C
ENST00000696729.1:n.1287G>C (HTRA2)
ENST00000696731.1:n.1296G>C (HTRA2)
ENST00000258080.8:c.1224G>C (HTRA2) MANE Select	ENSP00000258080.3:p.Arg408=
ENST00000264094.8:c.*774C>G (LOXL3) MANE Select	ENSP00000264094.3:n.*774C>G
ENST00000258080.7:c.1224G>C (HTRA2)	ENSP00000258080.3:p.Arg408=
ENST00000264094.7:c.*774C>G (LOXL3)	ENSP00000264094.3:n.*774C>G
ENST00000352222.7:c.933G>C (HTRA2)	ENSP00000312893.3:p.Arg311=
ENST00000409249.5:c.*774C>G (LOXL3)	ENSP00000387103.1:n.*774C>G
ENST00000437202.1:c.1119G>C (HTRA2)	ENSP00000399166.1:p.Arg373=
ENST00000462909.5:n.974G>C (HTRA2)
ENST00000467961.5:n.908G>C (HTRA2)
ENST00000470907.6:n.2419C>G (LOXL3)
ENST00000484352.5:n.1287G>C (HTRA2)
NM_001289164.1:c.*774C>G (LOXL3)	NP_001276093.1:n.*774C>G
NM_001289165.1:c.*774C>G (LOXL3)	NP_001276094.1:n.*774C>G
NM_013247.4:c.1224G>C (HTRA2)	NP_037379.1:p.Arg408=
NM_032603.3:c.*774C>G (LOXL3)	NP_115992.1:n.*774C>G
NM_145074.2:c.933G>C (HTRA2)	NP_659540.1:p.Arg311=
XM_005264266.2:c.1128G>C (HTRA2)	XP_005264323.1:p.Arg376=
NM_001289164.2:c.*774C>G (LOXL3)	NP_001276093.1:n.*774C>G
NM_001321727.1:c.1158G>C (HTRA2)	NP_001308656.1:p.Arg386=
NM_001321728.1:c.1128G>C (HTRA2)	NP_001308657.1:p.Arg376=
NM_032603.4:c.*774C>G (LOXL3)	NP_115992.1:n.*774C>G
NR_135769.1:n.1866G>C (HTRA2)
NR_135770.1:n.1294G>C (HTRA2)
NR_135771.1:n.1278G>C (HTRA2)
NR_135772.1:n.1298G>C (HTRA2)
NM_032603.5:c.*774C>G (LOXL3) MANE Select	NP_115992.1:n.*774C>G
NM_001289164.3:c.*774C>G (LOXL3)	NP_001276093.1:n.*774C>G
NM_001289165.2:c.*774C>G (LOXL3)	NP_001276094.1:n.*774C>G
NM_013247.5:c.1224G>C (HTRA2) MANE Select	NP_037379.1:p.Arg408=