Canonical Allele Identifier: CA8578375

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42565668C>A , CM000679.2:g.42565668C>A	GRCh38
NC_000017.10:g.40717686C>A , CM000679.1:g.40717686C>A	GRCh37
NC_000017.9:g.37971212C>A	NCBI36
NG_029442.1:g.3609C>A
NG_034110.1:g.8595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393818.3:c.1495C>A MANE Select	ENSP00000377406.1:p.Arg499Ser
ENST00000393818.2:c.1495C>A	ENSP00000377406.1:p.Arg499Ser
ENST00000421097.6:c.1495C>A	ENSP00000393564.2:p.Arg499Ser
ENST00000590958.5:c.1582C>A	ENSP00000464814.1:p.Arg528Ser
ENST00000591583.1:n.207C>A
ENST00000591753.1:n.1719C>A
NM_001042529.2:c.1495C>A	NP_001035994.1:p.Arg499Ser
NM_001042532.3:c.1582C>A	NP_001035997.2:p.Arg528Ser
NM_025233.6:c.1495C>A	NP_079509.5:p.Arg499Ser
XM_006722116.2:c.1582C>A	XP_006722179.1:p.Arg528Ser
XM_011525300.1:c.1495C>A	XP_011523602.1:p.Arg499Ser
XM_011525301.1:c.*49C>A	XP_011523603.1:n.*49C>A
XR_429926.1:n.1798C>A
XM_006722116.4:c.1582C>A	XP_006722179.1:p.Arg528Ser
XM_011525300.2:c.1495C>A	XP_011523602.1:p.Arg499Ser
NM_025233.7:c.1495C>A MANE Select	NP_079509.5:p.Arg499Ser
NM_001042529.3:c.1495C>A	NP_001035994.1:p.Arg499Ser
NM_001042532.4:c.1582C>A	NP_001035997.2:p.Arg528Ser