Canonical Allele Identifier: CA347383110

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532926C>T , CM000664.2:g.74532926C>T	GRCh38
NC_000002.11:g.74760053C>T , CM000664.1:g.74760053C>T	GRCh37
NC_000002.10:g.74613561C>T	NCBI36
NG_012163.1:g.8522C>T
NG_033037.1:g.1922G>A
NG_033047.1:g.26010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1252C>T (HTRA2)	ENSP00000399166.2:p.Gln418Ter
ENST00000462909.6:n.1068C>T (HTRA2)
ENST00000465521.2:n.1127C>T (HTRA2)
ENST00000467961.6:n.1052C>T (HTRA2)
ENST00000484881.6:n.943C>T (HTRA2)
ENST00000696725.1:n.1201C>T (HTRA2)
ENST00000696726.1:n.850C>T (HTRA2)
ENST00000696727.1:c.1222C>T (HTRA2)	ENSP00000512836.1:p.Gln408Ter
ENST00000696728.1:c.*225C>T (HTRA2)	ENSP00000512837.1:n.*225C>T
ENST00000696729.1:n.1381C>T (HTRA2)
ENST00000696731.1:n.1390C>T (HTRA2)
ENST00000258080.8:c.1318C>T (HTRA2) MANE Select	ENSP00000258080.3:p.Gln440Ter
ENST00000264094.8:c.*680G>A (LOXL3) MANE Select	ENSP00000264094.3:n.*680G>A
ENST00000258080.7:c.1318C>T (HTRA2)	ENSP00000258080.3:p.Gln440Ter
ENST00000264094.7:c.*680G>A (LOXL3)	ENSP00000264094.3:n.*680G>A
ENST00000352222.7:c.1027C>T (HTRA2)	ENSP00000312893.3:p.Gln343Ter
ENST00000409249.5:c.*680G>A (LOXL3)	ENSP00000387103.1:n.*680G>A
ENST00000437202.1:c.1213C>T (HTRA2)	ENSP00000399166.1:p.Gln405Ter
ENST00000462909.5:n.1068C>T (HTRA2)
ENST00000467961.5:n.1002C>T (HTRA2)
ENST00000470907.6:n.2325G>A (LOXL3)
ENST00000484352.5:n.1381C>T (HTRA2)
NM_001289164.1:c.*680G>A (LOXL3)	NP_001276093.1:n.*680G>A
NM_001289165.1:c.*680G>A (LOXL3)	NP_001276094.1:n.*680G>A
NM_013247.4:c.1318C>T (HTRA2)	NP_037379.1:p.Gln440Ter
NM_032603.3:c.*680G>A (LOXL3)	NP_115992.1:n.*680G>A
NM_145074.2:c.1027C>T (HTRA2)	NP_659540.1:p.Gln343Ter
XM_005264266.2:c.1222C>T (HTRA2)	XP_005264323.1:p.Gln408Ter
NM_001289164.2:c.*680G>A (LOXL3)	NP_001276093.1:n.*680G>A
NM_001321727.1:c.1252C>T (HTRA2)	NP_001308656.1:p.Gln418Ter
NM_001321728.1:c.1222C>T (HTRA2)	NP_001308657.1:p.Gln408Ter
NM_032603.4:c.*680G>A (LOXL3)	NP_115992.1:n.*680G>A
NR_135769.1:n.1960C>T (HTRA2)
NR_135770.1:n.1388C>T (HTRA2)
NR_135771.1:n.1372C>T (HTRA2)
NR_135772.1:n.1392C>T (HTRA2)
NM_032603.5:c.*680G>A (LOXL3) MANE Select	NP_115992.1:n.*680G>A
NM_001289164.3:c.*680G>A (LOXL3)	NP_001276093.1:n.*680G>A
NM_001289165.2:c.*680G>A (LOXL3)	NP_001276094.1:n.*680G>A
NM_013247.5:c.1318C>T (HTRA2) MANE Select	NP_037379.1:p.Gln440Ter