Canonical Allele Identifier: CA8578322

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42565469A>G , CM000679.2:g.42565469A>G	GRCh38
NC_000017.10:g.40717487A>G , CM000679.1:g.40717487A>G	GRCh37
NC_000017.9:g.37971013A>G	NCBI36
NG_029442.1:g.3410A>G
NG_034110.1:g.8396A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.1388-2A>G MANE Select	NP_079509.5:n.1388-2A>G
ENST00000393818.3:c.1388-2A>G MANE Select	ENSP00000377406.1:n.1388-2A>G
NM_001042529.2:c.1388-2A>G	NP_001035994.1:n.1388-2A>G
NM_001042529.3:c.1388-2A>G	NP_001035994.1:n.1388-2A>G
NM_001042532.3:c.1475-2A>G	NP_001035997.2:n.1475-2A>G
NM_001042532.4:c.1475-2A>G	NP_001035997.2:n.1475-2A>G
NM_025233.6:c.1388-2A>G	NP_079509.5:n.1388-2A>G
ENST00000393818.2:c.1388-2A>G	ENSP00000377406.1:n.1388-2A>G
ENST00000421097.6:c.1388-2A>G	ENSP00000393564.2:n.1388-2A>G
ENST00000590958.5:c.1475-2A>G	ENSP00000464814.1:n.1475-2A>G
ENST00000591583.1:n.8A>G
ENST00000591753.1:n.1612-2A>G
XM_006722116.2:c.1475-2A>G	XP_006722179.1:n.1475-2A>G
XM_006722116.4:c.1475-2A>G	XP_006722179.1:n.1475-2A>G
XM_011525300.1:c.1388-2A>G	XP_011523602.1:n.1388-2A>G
XM_011525300.2:c.1388-2A>G	XP_011523602.1:n.1388-2A>G
XM_011525301.1:c.1388-137A>G	XP_011523603.1:n.1388-137A>G
XR_429926.1:n.1691-2A>G