Canonical Allele Identifier: CA1728609

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532816A>G , CM000664.2:g.74532816A>G	GRCh38
NC_000002.11:g.74759943A>G , CM000664.1:g.74759943A>G	GRCh37
NC_000002.10:g.74613451A>G	NCBI36
NG_012163.1:g.8412A>G
NG_033037.1:g.2032T>C
NG_033047.1:g.26120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1146-4A>G (HTRA2)	ENSP00000399166.2:n.1146-4A>G
ENST00000462909.6:n.962-4A>G (HTRA2)
ENST00000465521.2:n.1021-4A>G (HTRA2)
ENST00000467961.6:n.946-4A>G (HTRA2)
ENST00000484881.6:n.837-4A>G (HTRA2)
ENST00000696725.1:n.1095-4A>G (HTRA2)
ENST00000696726.1:n.744-4A>G (HTRA2)
ENST00000696727.1:c.1116-4A>G (HTRA2)	ENSP00000512836.1:n.1116-4A>G
ENST00000696728.1:c.*119-4A>G (HTRA2)	ENSP00000512837.1:n.*119-4A>G
ENST00000696729.1:n.1275-4A>G (HTRA2)
ENST00000696731.1:n.1284-4A>G (HTRA2)
ENST00000258080.8:c.1212-4A>G (HTRA2) MANE Select	ENSP00000258080.3:n.1212-4A>G
ENST00000264094.8:c.*790T>C (LOXL3) MANE Select	ENSP00000264094.3:n.*790T>C
ENST00000258080.7:c.1212-4A>G (HTRA2)	ENSP00000258080.3:n.1212-4A>G
ENST00000264094.7:c.*790T>C (LOXL3)	ENSP00000264094.3:n.*790T>C
ENST00000352222.7:c.921-4A>G (HTRA2)	ENSP00000312893.3:n.921-4A>G
ENST00000409249.5:c.*790T>C (LOXL3)	ENSP00000387103.1:n.*790T>C
ENST00000437202.1:c.1107-4A>G (HTRA2)	ENSP00000399166.1:n.1107-4A>G
ENST00000462909.5:n.962-4A>G (HTRA2)
ENST00000467961.5:n.896-4A>G (HTRA2)
ENST00000470907.6:n.2435T>C (LOXL3)
ENST00000484352.5:n.1275-4A>G (HTRA2)
NM_001289164.1:c.*790T>C (LOXL3)	NP_001276093.1:n.*790T>C
NM_001289165.1:c.*790T>C (LOXL3)	NP_001276094.1:n.*790T>C
NM_013247.4:c.1212-4A>G (HTRA2)	NP_037379.1:n.1212-4A>G
NM_032603.3:c.*790T>C (LOXL3)	NP_115992.1:n.*790T>C
NM_145074.2:c.921-4A>G (HTRA2)	NP_659540.1:n.921-4A>G
XM_005264266.2:c.1116-4A>G (HTRA2)	XP_005264323.1:n.1116-4A>G
NM_001289164.2:c.*790T>C (LOXL3)	NP_001276093.1:n.*790T>C
NM_001321727.1:c.1146-4A>G (HTRA2)	NP_001308656.1:n.1146-4A>G
NM_001321728.1:c.1116-4A>G (HTRA2)	NP_001308657.1:n.1116-4A>G
NM_032603.4:c.*790T>C (LOXL3)	NP_115992.1:n.*790T>C
NR_135769.1:n.1854-4A>G (HTRA2)
NR_135770.1:n.1282-4A>G (HTRA2)
NR_135771.1:n.1266-4A>G (HTRA2)
NR_135772.1:n.1286-4A>G (HTRA2)
NM_032603.5:c.*790T>C (LOXL3) MANE Select	NP_115992.1:n.*790T>C
NM_001289164.3:c.*790T>C (LOXL3)	NP_001276093.1:n.*790T>C
NM_001289165.2:c.*790T>C (LOXL3)	NP_001276094.1:n.*790T>C
NM_013247.5:c.1212-4A>G (HTRA2) MANE Select	NP_037379.1:n.1212-4A>G