Canonical Allele Identifier: CA8578204

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42564773A>G , CM000679.2:g.42564773A>G	GRCh38
NC_000017.10:g.40716791A>G , CM000679.1:g.40716791A>G	GRCh37
NC_000017.9:g.37970317A>G	NCBI36
NG_029442.1:g.2714A>G
NG_034110.1:g.7700A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.1112A>G MANE Select	NP_079509.5:p.Lys371Arg
ENST00000393818.3:c.1112A>G MANE Select	ENSP00000377406.1:p.Lys371Arg
NM_001042529.2:c.1112A>G	NP_001035994.1:p.Lys371Arg
NM_001042529.3:c.1112A>G	NP_001035994.1:p.Lys371Arg
NM_001042532.3:c.1199A>G	NP_001035997.2:p.Lys400Arg
NM_001042532.4:c.1199A>G	NP_001035997.2:p.Lys400Arg
NM_025233.6:c.1112A>G	NP_079509.5:p.Lys371Arg
ENST00000393818.2:c.1112A>G	ENSP00000377406.1:p.Lys371Arg
ENST00000421097.6:c.1112A>G	ENSP00000393564.2:p.Lys371Arg
ENST00000590958.5:c.1199A>G	ENSP00000464814.1:p.Lys400Arg
ENST00000591753.1:n.1336A>G
ENST00000591779.5:c.227A>G	ENSP00000467687.1:p.Lys76Arg
XM_006722116.2:c.1199A>G	XP_006722179.1:p.Lys400Arg
XM_006722116.4:c.1199A>G	XP_006722179.1:p.Lys400Arg
XM_011525300.1:c.1112A>G	XP_011523602.1:p.Lys371Arg
XM_011525300.2:c.1112A>G	XP_011523602.1:p.Lys371Arg
XM_011525301.1:c.1112A>G	XP_011523603.1:p.Lys371Arg
XR_429926.1:n.1540+196A>G