Canonical Allele Identifier: CA1413816716

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.157437072A>T , CM000665.2:g.157437072A>T GRCh38
NC_000003.11:g.157154861A>T , CM000665.1:g.157154861A>T GRCh37
NC_000003.10:g.158637555A>T NCBI36
NG_051000.1:g.5282A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295927.4:c.130+9A>T (PTX3) MANE Select ENSP00000295927.3:n.130+9A>T
ENST00000362010.7:c.530-8584T>A (VEPH1) MANE Select ENSP00000354919.2:n.530-8584T>A
ENST00000295927.3:c.130+9A>T (PTX3) ENSP00000295927.3:n.130+9A>T
ENST00000362010.6:c.530-8584T>A (VEPH1) ENSP00000354919.2:n.530-8584T>A
ENST00000392832.6:c.530-8584T>A (VEPH1) ENSP00000376577.2:n.530-8584T>A
ENST00000392833.6:c.530-8584T>A (VEPH1) ENSP00000376578.2:n.530-8584T>A
ENST00000479987.5:c.194-8584T>A (VEPH1) ENSP00000418963.1:n.194-8584T>A
NM_001167911.1:c.530-8584T>A (VEPH1) NP_001161383.1:n.530-8584T>A
NM_001167912.1:c.530-8584T>A (VEPH1) NP_001161384.1:n.530-8584T>A
NM_002852.3:c.130+9A>T (PTX3) NP_002843.2:n.130+9A>T
NM_024621.2:c.530-8584T>A (VEPH1) NP_078897.2:n.530-8584T>A
XM_011513134.1:c.563-8584T>A (VEPH1) XP_011511436.1:n.563-8584T>A
XM_011513135.1:c.395-8584T>A (VEPH1) XP_011511437.1:n.395-8584T>A
XM_011513134.2:c.563-8584T>A (VEPH1) XP_011511436.1:n.563-8584T>A
XM_011513135.2:c.395-8584T>A (VEPH1) XP_011511437.1:n.395-8584T>A
XM_024453746.1:c.530-8584T>A (VEPH1) XP_024309514.1:n.530-8584T>A
XM_024453747.1:c.530-8584T>A (VEPH1) XP_024309515.1:n.530-8584T>A
XM_024453748.1:c.530-8584T>A (VEPH1) XP_024309516.1:n.530-8584T>A
NM_001167912.2:c.530-8584T>A (VEPH1) MANE Select NP_001161384.1:n.530-8584T>A
NM_002852.4:c.130+9A>T (PTX3) MANE Select NP_002843.2:n.130+9A>T
NM_001167911.2:c.530-8584T>A (VEPH1) NP_001161383.1:n.530-8584T>A