Canonical Allele Identifier: CA10613992

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74533276G>A , CM000664.2:g.74533276G>A	GRCh38
NC_000002.11:g.74760403G>A , CM000664.1:g.74760403G>A	GRCh37
NC_000002.10:g.74613911G>A	NCBI36
NG_012163.1:g.8872G>A
NG_033037.1:g.1572C>T
NG_033047.1:g.25660C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013247.5:c.*291G>A (HTRA2) MANE Select	NP_037379.1:n.*291G>A
NM_032603.5:c.*330C>T (LOXL3) MANE Select	NP_115992.1:n.*330C>T
ENST00000258080.8:c.*291G>A (HTRA2) MANE Select	ENSP00000258080.3:n.*291G>A
ENST00000264094.8:c.*330C>T (LOXL3) MANE Select	ENSP00000264094.3:n.*330C>T
NM_001289164.1:c.*330C>T (LOXL3)	NP_001276093.1:n.*330C>T
NM_001289164.2:c.*330C>T (LOXL3)	NP_001276093.1:n.*330C>T
NM_001289164.3:c.*330C>T (LOXL3)	NP_001276093.1:n.*330C>T
NM_001289165.1:c.*330C>T (LOXL3)	NP_001276094.1:n.*330C>T
NM_001289165.2:c.*330C>T (LOXL3)	NP_001276094.1:n.*330C>T
NM_001321727.1:c.*291G>A (HTRA2)	NP_001308656.1:n.*291G>A
NM_001321728.1:c.*291G>A (HTRA2)	NP_001308657.1:n.*291G>A
NM_013247.4:c.*291G>A (HTRA2)	NP_037379.1:n.*291G>A
NM_032603.3:c.*330C>T (LOXL3)	NP_115992.1:n.*330C>T
NM_032603.4:c.*330C>T (LOXL3)	NP_115992.1:n.*330C>T
NM_145074.2:c.*291G>A (HTRA2)	NP_659540.1:n.*291G>A
NR_135769.1:n.2310G>A (HTRA2)
NR_135770.1:n.1738G>A (HTRA2)
NR_135771.1:n.1722G>A (HTRA2)
NR_135772.1:n.1742G>A (HTRA2)
ENST00000258080.7:c.*291G>A (HTRA2)	ENSP00000258080.3:n.*291G>A
ENST00000264094.7:c.*330C>T (LOXL3)	ENSP00000264094.3:n.*330C>T
ENST00000352222.7:c.*291G>A (HTRA2)	ENSP00000312893.3:n.*291G>A
ENST00000393937.6:c.*330C>T (LOXL3)	ENSP00000377512.2:n.*330C>T
ENST00000409249.5:c.*330C>T (LOXL3)	ENSP00000387103.1:n.*330C>T
ENST00000409549.5:c.*330C>T (LOXL3)	ENSP00000386696.1:n.*330C>T
ENST00000467961.6:n.1402G>A (HTRA2)
ENST00000470907.6:n.1975C>T (LOXL3)
ENST00000484352.5:n.1731G>A (HTRA2)
ENST00000696727.1:c.*291G>A (HTRA2)	ENSP00000512836.1:n.*291G>A
ENST00000696729.1:n.1731G>A (HTRA2)
XM_011533134.1:c.*330C>T (LOXL3)	XP_011531436.1:n.*330C>T
XM_011533134.2:c.*330C>T (LOXL3)	XP_011531436.1:n.*330C>T
XM_017005112.1:c.*330C>T (LOXL3)	XP_016860601.1:n.*330C>T
XM_024453176.1:c.*330C>T (LOXL3)	XP_024308944.1:n.*330C>T
XM_024453177.1:c.*330C>T (LOXL3)	XP_024308945.1:n.*330C>T
XM_024453178.1:c.*330C>T (LOXL3)	XP_024308946.1:n.*330C>T