Canonical Allele Identifier: CA1261471839

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74532698G= , CM000664.2:g.74532698G= GRCh38
NC_000002.11:g.74759825G= , CM000664.1:g.74759825G= GRCh37
NC_000002.10:g.74613333G= NCBI36
NG_012163.1:g.8294G=
NG_033037.1:g.2150C=
NG_033047.1:g.26238C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000437202.2:c.1146-122G= (HTRA2) ENSP00000399166.2:n.1146-122G=
ENST00000462909.6:n.945G= (HTRA2)
ENST00000465521.2:n.1021-122G= (HTRA2)
ENST00000467961.6:n.929G= (HTRA2)
ENST00000484881.6:n.820G= (HTRA2)
ENST00000696725.1:n.1078G= (HTRA2)
ENST00000696726.1:n.744-122G= (HTRA2)
ENST00000696727.1:c.1116-122G= (HTRA2) ENSP00000512836.1:n.1116-122G=
ENST00000696728.1:c.*102G= (HTRA2) ENSP00000512837.1:n.*102G=
ENST00000696729.1:n.1258G= (HTRA2)
ENST00000696731.1:n.1267G= (HTRA2)
ENST00000258080.8:c.1195G= (HTRA2) MANE Select ENSP00000258080.3:p.Gly399=
ENST00000264094.8:c.*908C= (LOXL3) MANE Select ENSP00000264094.3:n.*908C=
ENST00000258080.7:c.1195G= (HTRA2) ENSP00000258080.3:p.Gly399=
ENST00000264094.7:c.*908C= (LOXL3) ENSP00000264094.3:n.*908C=
ENST00000352222.7:c.921-122G= (HTRA2) ENSP00000312893.3:n.921-122G=
ENST00000409249.5:c.*908C= (LOXL3) ENSP00000387103.1:n.*908C=
ENST00000437202.1:c.1107-122G= (HTRA2) ENSP00000399166.1:n.1107-122G=
ENST00000462909.5:n.945G= (HTRA2)
ENST00000467961.5:n.879G= (HTRA2)
ENST00000470907.6:n.2553C= (LOXL3)
ENST00000484352.5:n.1258G= (HTRA2)
NM_001289164.1:c.*908C= (LOXL3) NP_001276093.1:n.*908C=
NM_001289165.1:c.*908C= (LOXL3) NP_001276094.1:n.*908C=
NM_013247.4:c.1195G= (HTRA2) NP_037379.1:p.Gly399=
NM_032603.3:c.*908C= (LOXL3) NP_115992.1:n.*908C=
NM_145074.2:c.921-122G= (HTRA2) NP_659540.1:n.921-122G=
XM_005264266.2:c.1116-122G= (HTRA2) XP_005264323.1:n.1116-122G=
NM_001289164.2:c.*908C= (LOXL3) NP_001276093.1:n.*908C=
NM_001321727.1:c.1146-122G= (HTRA2) NP_001308656.1:n.1146-122G=
NM_001321728.1:c.1116-122G= (HTRA2) NP_001308657.1:n.1116-122G=
NM_032603.4:c.*908C= (LOXL3) NP_115992.1:n.*908C=
NR_135769.1:n.1837G= (HTRA2)
NR_135770.1:n.1265G= (HTRA2)
NR_135771.1:n.1249G= (HTRA2)
NR_135772.1:n.1269G= (HTRA2)
NM_032603.5:c.*908C= (LOXL3) MANE Select NP_115992.1:n.*908C=
NM_001289164.3:c.*908C= (LOXL3) NP_001276093.1:n.*908C=
NM_001289165.2:c.*908C= (LOXL3) NP_001276094.1:n.*908C=
NM_013247.5:c.1195G= (HTRA2) MANE Select NP_037379.1:p.Gly399=