Canonical Allele Identifier: CA356249892

Gene: HTRA3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.8270093G>T , CM000666.2:g.8270093G>T	GRCh38
NC_000004.11:g.8271820G>T , CM000666.1:g.8271820G>T	GRCh37
NC_000004.10:g.8322720G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_053044.5:c.125G>T MANE Select	NP_444272.1:p.Gly42Val
ENST00000307358.7:c.125G>T MANE Select	ENSP00000303766.2:p.Gly42Val
NM_001297559.1:c.125G>T	NP_001284488.1:p.Gly42Val
NM_001297559.2:c.125G>T	NP_001284488.1:p.Gly42Val
NM_001297559.3:c.125G>T	NP_001284488.1:p.Gly42Val
NM_053044.4:c.125G>T	NP_444272.1:p.Gly42Val
ENST00000307358.6:c.125G>T	ENSP00000303766.2:p.Gly42Val
ENST00000382512.3:c.125G>T	ENSP00000371952.3:p.Gly42Val
XM_011513596.1:c.125G>T	XP_011511898.1:p.Gly42Val
XM_011513596.3:c.125G>T	XP_011511898.1:p.Gly42Val
XR_001741572.1:n.75+14C>A