Canonical Allele Identifier: CA2260539772
Community Standard Title: NM_025233.7(COASY):c.175C= (p.Gln59=)
Gene: COASY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42562797C= , CM000679.2:g.42562797C= GRCh38
NC_000017.10:g.40714815C= , CM000679.1:g.40714815C= GRCh37
NC_000017.9:g.37968341C= NCBI36
NG_029442.1:g.738C=
NG_034110.1:g.5724C=

Transcript Alleles

HGVS Amino-acid Change
NM_025233.7:c.175C= MANE Select NP_079509.5:p.Gln59=
ENST00000393818.3:c.175C= MANE Select ENSP00000377406.1:p.Gln59=
NM_001042529.2:c.175C= NP_001035994.1:p.Gln59=
NM_001042529.3:c.175C= NP_001035994.1:p.Gln59=
NM_001042532.3:c.262C= NP_001035997.2:p.Gln88=
NM_001042532.4:c.262C= NP_001035997.2:p.Gln88=
NM_025233.6:c.175C= NP_079509.5:p.Gln59=
ENST00000393818.2:c.175C= ENSP00000377406.1:p.Gln59=
ENST00000421097.6:c.175C= ENSP00000393564.2:p.Gln59=
ENST00000585811.1:c.175C= ENSP00000467174.1:p.Gln59=
ENST00000585909.1:c.262C= ENSP00000467519.1:p.Gln88=
ENST00000586771.1:c.175C= ENSP00000466838.1:p.Gln59=
ENST00000587157.1:c.77-136C= ENSP00000467322.1:n.77-136C=
ENST00000587214.1:c.175C= ENSP00000468583.1:p.Gln59=
ENST00000587858.5:c.262C= ENSP00000468755.1:p.Gln88=
ENST00000590958.5:c.262C= ENSP00000464814.1:p.Gln88=
ENST00000591779.5:c.-575-136C= ENSP00000467687.1:n.-575-136C=
XM_006722116.2:c.262C= XP_006722179.1:p.Gln88=
XM_006722116.4:c.262C= XP_006722179.1:p.Gln88=
XM_011525300.1:c.175C= XP_011523602.1:p.Gln59=
XM_011525300.2:c.175C= XP_011523602.1:p.Gln59=
XM_011525301.1:c.175C= XP_011523603.1:p.Gln59=
XR_429926.1:n.668C=