Canonical Allele Identifier: CA399599598

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42565752C>T , CM000679.2:g.42565752C>T	GRCh38
NC_000017.10:g.40717770C>T , CM000679.1:g.40717770C>T	GRCh37
NC_000017.9:g.37971296C>T	NCBI36
NG_029442.1:g.3693C>T
NG_034110.1:g.8679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.1579C>T MANE Select	NP_079509.5:p.Gln527Ter
ENST00000393818.3:c.1579C>T MANE Select	ENSP00000377406.1:p.Gln527Ter
NM_001042529.2:c.1579C>T	NP_001035994.1:p.Gln527Ter
NM_001042529.3:c.1579C>T	NP_001035994.1:p.Gln527Ter
NM_001042532.3:c.1666C>T	NP_001035997.2:p.Gln556Ter
NM_001042532.4:c.1666C>T	NP_001035997.2:p.Gln556Ter
NM_025233.6:c.1579C>T	NP_079509.5:p.Gln527Ter
ENST00000393818.2:c.1579C>T	ENSP00000377406.1:p.Gln527Ter
ENST00000421097.6:c.1579C>T	ENSP00000393564.2:p.Gln527Ter
ENST00000590958.5:c.1666C>T	ENSP00000464814.1:p.Gln556Ter
ENST00000591583.1:n.291C>T
ENST00000591753.1:n.1803C>T
XM_006722116.2:c.1666C>T	XP_006722179.1:p.Gln556Ter
XM_006722116.4:c.1666C>T	XP_006722179.1:p.Gln556Ter
XM_011525300.1:c.1579C>T	XP_011523602.1:p.Gln527Ter
XM_011525300.2:c.1579C>T	XP_011523602.1:p.Gln527Ter
XR_429926.1:n.1882C>T