Canonical Allele Identifier: CA347383177

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532942G>A , CM000664.2:g.74532942G>A	GRCh38
NC_000002.11:g.74760069G>A , CM000664.1:g.74760069G>A	GRCh37
NC_000002.10:g.74613577G>A	NCBI36
NG_012163.1:g.8538G>A
NG_033037.1:g.1906C>T
NG_033047.1:g.25994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1268G>A (HTRA2)	ENSP00000399166.2:p.Arg423Gln
ENST00000465521.2:n.1143G>A (HTRA2)
ENST00000467961.6:n.1068G>A (HTRA2)
ENST00000484881.6:n.959G>A (HTRA2)
ENST00000696725.1:n.1217G>A (HTRA2)
ENST00000696726.1:n.866G>A (HTRA2)
ENST00000696727.1:c.1238G>A (HTRA2)	ENSP00000512836.1:p.Arg413Gln
ENST00000696728.1:c.*241G>A (HTRA2)	ENSP00000512837.1:n.*241G>A
ENST00000696729.1:n.1397G>A (HTRA2)
ENST00000696731.1:n.1406G>A (HTRA2)
ENST00000258080.8:c.1334G>A (HTRA2) MANE Select	ENSP00000258080.3:p.Arg445Gln
ENST00000264094.8:c.*664C>T (LOXL3) MANE Select	ENSP00000264094.3:n.*664C>T
ENST00000258080.7:c.1334G>A (HTRA2)	ENSP00000258080.3:p.Arg445Gln
ENST00000264094.7:c.*664C>T (LOXL3)	ENSP00000264094.3:n.*664C>T
ENST00000352222.7:c.1043G>A (HTRA2)	ENSP00000312893.3:p.Arg348Gln
ENST00000409249.5:c.*664C>T (LOXL3)	ENSP00000387103.1:n.*664C>T
ENST00000437202.1:c.1229G>A (HTRA2)	ENSP00000399166.1:p.Arg410Gln
ENST00000462909.5:n.1084G>A (HTRA2)
ENST00000467961.5:n.1018G>A (HTRA2)
ENST00000470907.6:n.2309C>T (LOXL3)
ENST00000484352.5:n.1397G>A (HTRA2)
NM_001289164.1:c.*664C>T (LOXL3)	NP_001276093.1:n.*664C>T
NM_001289165.1:c.*664C>T (LOXL3)	NP_001276094.1:n.*664C>T
NM_013247.4:c.1334G>A (HTRA2)	NP_037379.1:p.Arg445Gln
NM_032603.3:c.*664C>T (LOXL3)	NP_115992.1:n.*664C>T
NM_145074.2:c.1043G>A (HTRA2)	NP_659540.1:p.Arg348Gln
XM_005264266.2:c.1238G>A (HTRA2)	XP_005264323.1:p.Arg413Gln
NM_001289164.2:c.*664C>T (LOXL3)	NP_001276093.1:n.*664C>T
NM_001321727.1:c.1268G>A (HTRA2)	NP_001308656.1:p.Arg423Gln
NM_001321728.1:c.1238G>A (HTRA2)	NP_001308657.1:p.Arg413Gln
NM_032603.4:c.*664C>T (LOXL3)	NP_115992.1:n.*664C>T
NR_135769.1:n.1976G>A (HTRA2)
NR_135770.1:n.1404G>A (HTRA2)
NR_135771.1:n.1388G>A (HTRA2)
NR_135772.1:n.1408G>A (HTRA2)
NM_032603.5:c.*664C>T (LOXL3) MANE Select	NP_115992.1:n.*664C>T
NM_001289164.3:c.*664C>T (LOXL3)	NP_001276093.1:n.*664C>T
NM_001289165.2:c.*664C>T (LOXL3)	NP_001276094.1:n.*664C>T
NM_013247.5:c.1334G>A (HTRA2) MANE Select	NP_037379.1:p.Arg445Gln