Canonical Allele Identifier: CA1728617

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532851G>A , CM000664.2:g.74532851G>A	GRCh38
NC_000002.11:g.74759978G>A , CM000664.1:g.74759978G>A	GRCh37
NC_000002.10:g.74613486G>A	NCBI36
NG_012163.1:g.8447G>A
NG_033037.1:g.1997C>T
NG_033047.1:g.26085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1177G>A (HTRA2)	ENSP00000399166.2:p.Ala393Thr
ENST00000462909.6:n.993G>A (HTRA2)
ENST00000465521.2:n.1052G>A (HTRA2)
ENST00000467961.6:n.977G>A (HTRA2)
ENST00000484881.6:n.868G>A (HTRA2)
ENST00000696725.1:n.1126G>A (HTRA2)
ENST00000696726.1:n.775G>A (HTRA2)
ENST00000696727.1:c.1147G>A (HTRA2)	ENSP00000512836.1:p.Ala383Thr
ENST00000696728.1:c.*150G>A (HTRA2)	ENSP00000512837.1:n.*150G>A
ENST00000696729.1:n.1306G>A (HTRA2)
ENST00000696731.1:n.1315G>A (HTRA2)
ENST00000258080.8:c.1243G>A (HTRA2) MANE Select	ENSP00000258080.3:p.Ala415Thr
ENST00000264094.8:c.*755C>T (LOXL3) MANE Select	ENSP00000264094.3:n.*755C>T
ENST00000258080.7:c.1243G>A (HTRA2)	ENSP00000258080.3:p.Ala415Thr
ENST00000264094.7:c.*755C>T (LOXL3)	ENSP00000264094.3:n.*755C>T
ENST00000352222.7:c.952G>A (HTRA2)	ENSP00000312893.3:p.Ala318Thr
ENST00000409249.5:c.*755C>T (LOXL3)	ENSP00000387103.1:n.*755C>T
ENST00000437202.1:c.1138G>A (HTRA2)	ENSP00000399166.1:p.Ala380Thr
ENST00000462909.5:n.993G>A (HTRA2)
ENST00000467961.5:n.927G>A (HTRA2)
ENST00000470907.6:n.2400C>T (LOXL3)
ENST00000484352.5:n.1306G>A (HTRA2)
NM_001289164.1:c.*755C>T (LOXL3)	NP_001276093.1:n.*755C>T
NM_001289165.1:c.*755C>T (LOXL3)	NP_001276094.1:n.*755C>T
NM_013247.4:c.1243G>A (HTRA2)	NP_037379.1:p.Ala415Thr
NM_032603.3:c.*755C>T (LOXL3)	NP_115992.1:n.*755C>T
NM_145074.2:c.952G>A (HTRA2)	NP_659540.1:p.Ala318Thr
XM_005264266.2:c.1147G>A (HTRA2)	XP_005264323.1:p.Ala383Thr
NM_001289164.2:c.*755C>T (LOXL3)	NP_001276093.1:n.*755C>T
NM_001321727.1:c.1177G>A (HTRA2)	NP_001308656.1:p.Ala393Thr
NM_001321728.1:c.1147G>A (HTRA2)	NP_001308657.1:p.Ala383Thr
NM_032603.4:c.*755C>T (LOXL3)	NP_115992.1:n.*755C>T
NR_135769.1:n.1885G>A (HTRA2)
NR_135770.1:n.1313G>A (HTRA2)
NR_135771.1:n.1297G>A (HTRA2)
NR_135772.1:n.1317G>A (HTRA2)
NM_032603.5:c.*755C>T (LOXL3) MANE Select	NP_115992.1:n.*755C>T
NM_001289164.3:c.*755C>T (LOXL3)	NP_001276093.1:n.*755C>T
NM_001289165.2:c.*755C>T (LOXL3)	NP_001276094.1:n.*755C>T
NM_013247.5:c.1243G>A (HTRA2) MANE Select	NP_037379.1:p.Ala415Thr