Canonical Allele Identifier: CA1728624

Gene: HTRA2 LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74532886T>C , CM000664.2:g.74532886T>C	GRCh38
NC_000002.11:g.74760013T>C , CM000664.1:g.74760013T>C	GRCh37
NC_000002.10:g.74613521T>C	NCBI36
NG_012163.1:g.8482T>C
NG_033037.1:g.1962A>G
NG_033047.1:g.26050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.1212T>C (HTRA2)	ENSP00000399166.2:p.Asp404=
ENST00000462909.6:n.1028T>C (HTRA2)
ENST00000465521.2:n.1087T>C (HTRA2)
ENST00000467961.6:n.1012T>C (HTRA2)
ENST00000484881.6:n.903T>C (HTRA2)
ENST00000696725.1:n.1161T>C (HTRA2)
ENST00000696726.1:n.810T>C (HTRA2)
ENST00000696727.1:c.1182T>C (HTRA2)	ENSP00000512836.1:p.Asp394=
ENST00000696728.1:c.*185T>C (HTRA2)	ENSP00000512837.1:n.*185T>C
ENST00000696729.1:n.1341T>C (HTRA2)
ENST00000696731.1:n.1350T>C (HTRA2)
ENST00000258080.8:c.1278T>C (HTRA2) MANE Select	ENSP00000258080.3:p.Asp426=
ENST00000264094.8:c.*720A>G (LOXL3) MANE Select	ENSP00000264094.3:n.*720A>G
ENST00000258080.7:c.1278T>C (HTRA2)	ENSP00000258080.3:p.Asp426=
ENST00000264094.7:c.*720A>G (LOXL3)	ENSP00000264094.3:n.*720A>G
ENST00000352222.7:c.987T>C (HTRA2)	ENSP00000312893.3:p.Asp329=
ENST00000409249.5:c.*720A>G (LOXL3)	ENSP00000387103.1:n.*720A>G
ENST00000437202.1:c.1173T>C (HTRA2)	ENSP00000399166.1:p.Asp391=
ENST00000462909.5:n.1028T>C (HTRA2)
ENST00000467961.5:n.962T>C (HTRA2)
ENST00000470907.6:n.2365A>G (LOXL3)
ENST00000484352.5:n.1341T>C (HTRA2)
NM_001289164.1:c.*720A>G (LOXL3)	NP_001276093.1:n.*720A>G
NM_001289165.1:c.*720A>G (LOXL3)	NP_001276094.1:n.*720A>G
NM_013247.4:c.1278T>C (HTRA2)	NP_037379.1:p.Asp426=
NM_032603.3:c.*720A>G (LOXL3)	NP_115992.1:n.*720A>G
NM_145074.2:c.987T>C (HTRA2)	NP_659540.1:p.Asp329=
XM_005264266.2:c.1182T>C (HTRA2)	XP_005264323.1:p.Asp394=
NM_001289164.2:c.*720A>G (LOXL3)	NP_001276093.1:n.*720A>G
NM_001321727.1:c.1212T>C (HTRA2)	NP_001308656.1:p.Asp404=
NM_001321728.1:c.1182T>C (HTRA2)	NP_001308657.1:p.Asp394=
NM_032603.4:c.*720A>G (LOXL3)	NP_115992.1:n.*720A>G
NR_135769.1:n.1920T>C (HTRA2)
NR_135770.1:n.1348T>C (HTRA2)
NR_135771.1:n.1332T>C (HTRA2)
NR_135772.1:n.1352T>C (HTRA2)
NM_032603.5:c.*720A>G (LOXL3) MANE Select	NP_115992.1:n.*720A>G
NM_001289164.3:c.*720A>G (LOXL3)	NP_001276093.1:n.*720A>G
NM_001289165.2:c.*720A>G (LOXL3)	NP_001276094.1:n.*720A>G
NM_013247.5:c.1278T>C (HTRA2) MANE Select	NP_037379.1:p.Asp426=