Canonical Allele Identifier: CA399617900

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42563045C>A , CM000679.2:g.42563045C>A	GRCh38
NC_000017.10:g.40715063C>A , CM000679.1:g.40715063C>A	GRCh37
NC_000017.9:g.37968589C>A	NCBI36
NG_029442.1:g.986C>A
NG_034110.1:g.5972C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.423C>A MANE Select	NP_079509.5:p.Tyr141Ter
ENST00000393818.3:c.423C>A MANE Select	ENSP00000377406.1:p.Tyr141Ter
NM_001042529.2:c.423C>A	NP_001035994.1:p.Tyr141Ter
NM_001042529.3:c.423C>A	NP_001035994.1:p.Tyr141Ter
NM_001042532.3:c.510C>A	NP_001035997.2:p.Tyr170Ter
NM_001042532.4:c.510C>A	NP_001035997.2:p.Tyr170Ter
NM_025233.6:c.423C>A	NP_079509.5:p.Tyr141Ter
ENST00000393818.2:c.423C>A	ENSP00000377406.1:p.Tyr141Ter
ENST00000421097.6:c.423C>A	ENSP00000393564.2:p.Tyr141Ter
ENST00000586771.1:c.423C>A	ENSP00000466838.1:p.Tyr141Ter
ENST00000587157.1:c.189C>A	ENSP00000467322.1:p.Tyr63Ter
ENST00000587214.1:c.423C>A	ENSP00000468583.1:p.Tyr141Ter
ENST00000590958.5:c.510C>A	ENSP00000464814.1:p.Tyr170Ter
ENST00000591779.5:c.-463C>A	ENSP00000467687.1:n.-463C>A
XM_006722116.2:c.510C>A	XP_006722179.1:p.Tyr170Ter
XM_006722116.4:c.510C>A	XP_006722179.1:p.Tyr170Ter
XM_011525300.1:c.423C>A	XP_011523602.1:p.Tyr141Ter
XM_011525300.2:c.423C>A	XP_011523602.1:p.Tyr141Ter
XM_011525301.1:c.423C>A	XP_011523603.1:p.Tyr141Ter
XR_429926.1:n.916C>A