Canonical Allele Identifier: CA8416940

Gene: COPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17281181C>T , CM000679.2:g.17281181C>T	GRCh38
NC_000017.10:g.17184495C>T , CM000679.1:g.17184495C>T	GRCh37
NC_000017.9:g.17125220C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268717.10:c.6G>A MANE Select	ENSP00000268717.5:p.Ala2=
ENST00000268717.9:c.6G>A	ENSP00000268717.5:p.Ala2=
ENST00000417352.5:c.6G>A	ENSP00000409028.1:p.Ala2=
ENST00000477299.5:c.6G>A	ENSP00000463195.1:p.Ala2=
ENST00000492672.5:c.6G>A	ENSP00000463477.1:p.Ala2=
ENST00000577210.5:c.6G>A	ENSP00000463340.1:p.Ala2=
ENST00000577246.5:c.6G>A	ENSP00000464369.1:p.Ala2=
ENST00000578317.5:c.6G>A	ENSP00000464572.1:p.Ala2=
ENST00000584216.5:c.6G>A	ENSP00000463098.1:p.Ala2=
NM_001316354.1:c.-472G>A	NP_001303283.1:n.-472G>A
NM_001316355.1:c.6G>A	NP_001303284.1:p.Ala2=
NM_001316356.1:c.-66G>A	NP_001303285.1:n.-66G>A
NM_001316357.1:c.-260G>A	NP_001303286.1:n.-260G>A
NM_001316358.1:c.-130G>A	NP_001303287.1:n.-130G>A
NM_003653.3:c.6G>A	NP_003644.2:p.Ala2=
XM_005256837.3:c.-74G>A	XP_005256894.1:n.-74G>A
XM_005256840.2:c.-453G>A	XP_005256897.1:n.-453G>A
XM_005256842.3:c.-323G>A	XP_005256899.1:n.-323G>A
XM_005256837.4:c.-74G>A	XP_005256894.1:n.-74G>A
XM_005256840.3:c.-453G>A	XP_005256897.1:n.-453G>A
XM_005256842.4:c.-323G>A	XP_005256899.1:n.-323G>A
NM_003653.4:c.6G>A MANE Select	NP_003644.2:p.Ala2=
NM_001316354.2:c.-472G>A	NP_001303283.1:n.-472G>A
NM_001316355.2:c.6G>A	NP_001303284.1:p.Ala2=
NM_001316356.2:c.-66G>A	NP_001303285.1:n.-66G>A
NM_001316357.2:c.-260G>A	NP_001303286.1:n.-260G>A
NM_001316358.2:c.-130G>A	NP_001303287.1:n.-130G>A