Canonical Allele Identifier: CA427039156

Gene: HTRA2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74530243C>T , CM000664.2:g.74530243C>T	GRCh38
NC_000002.11:g.74757370C>T , CM000664.1:g.74757370C>T	GRCh37
NC_000002.10:g.74610878C>T	NCBI36
NG_012163.1:g.5839C>T
NG_033037.1:g.4605G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013247.5:c.237C>T MANE Select	NP_037379.1:p.Pro79=
ENST00000258080.8:c.237C>T MANE Select	ENSP00000258080.3:p.Pro79=
NM_001321727.1:c.237C>T	NP_001308656.1:p.Pro79=
NM_001321728.1:c.237C>T	NP_001308657.1:p.Pro79=
NM_013247.4:c.237C>T	NP_037379.1:p.Pro79=
NM_145074.2:c.237C>T	NP_659540.1:p.Pro79=
NR_135769.1:n.839C>T
NR_135770.1:n.509-202C>T
NR_135771.1:n.509-218C>T
NR_135772.1:n.509-198C>T
ENST00000258080.7:c.237C>T	ENSP00000258080.3:p.Pro79=
ENST00000352222.7:c.237C>T	ENSP00000312893.3:p.Pro79=
ENST00000437202.1:c.198C>T	ENSP00000399166.1:p.Pro66=
ENST00000437202.2:c.237C>T	ENSP00000399166.2:p.Pro79=
ENST00000462909.5:n.189-202C>T
ENST00000462909.6:n.189-202C>T
ENST00000467961.5:n.139-218C>T
ENST00000467961.6:n.189-218C>T
ENST00000484352.5:n.75C>T
ENST00000484881.5:n.91+331C>T
ENST00000484881.6:n.91+331C>T
ENST00000696725.1:n.318-198C>T
ENST00000696726.1:n.134+331C>T
ENST00000696727.1:c.237C>T	ENSP00000512836.1:p.Pro79=
ENST00000696728.1:c.237C>T	ENSP00000512837.1:p.Pro79=
XM_005264266.2:c.237C>T	XP_005264323.1:p.Pro79=