Canonical Allele Identifier: CA399595783

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42564136T>A , CM000679.2:g.42564136T>A	GRCh38
NC_000017.10:g.40716154T>A , CM000679.1:g.40716154T>A	GRCh37
NC_000017.9:g.37969680T>A	NCBI36
NG_029442.1:g.2077T>A
NG_034110.1:g.7063T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.876T>A MANE Select	NP_079509.5:p.Tyr292Ter
ENST00000393818.3:c.876T>A MANE Select	ENSP00000377406.1:p.Tyr292Ter
NM_001042529.2:c.876T>A	NP_001035994.1:p.Tyr292Ter
NM_001042529.3:c.876T>A	NP_001035994.1:p.Tyr292Ter
NM_001042532.3:c.963T>A	NP_001035997.2:p.Tyr321Ter
NM_001042532.4:c.963T>A	NP_001035997.2:p.Tyr321Ter
NM_025233.6:c.876T>A	NP_079509.5:p.Tyr292Ter
ENST00000393818.2:c.876T>A	ENSP00000377406.1:p.Tyr292Ter
ENST00000421097.6:c.876T>A	ENSP00000393564.2:p.Tyr292Ter
ENST00000588353.1:n.122T>A
ENST00000590958.5:c.963T>A	ENSP00000464814.1:p.Tyr321Ter
ENST00000591753.1:n.830T>A
ENST00000591779.5:c.-10T>A	ENSP00000467687.1:n.-10T>A
XM_006722116.2:c.963T>A	XP_006722179.1:p.Tyr321Ter
XM_006722116.4:c.963T>A	XP_006722179.1:p.Tyr321Ter
XM_011525300.1:c.876T>A	XP_011523602.1:p.Tyr292Ter
XM_011525300.2:c.876T>A	XP_011523602.1:p.Tyr292Ter
XM_011525301.1:c.876T>A	XP_011523603.1:p.Tyr292Ter
XR_429926.1:n.1369T>A