Canonical Allele Identifier: CA399596216

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42564476C>T , CM000679.2:g.42564476C>T	GRCh38
NC_000017.10:g.40716494C>T , CM000679.1:g.40716494C>T	GRCh37
NC_000017.9:g.37970020C>T	NCBI36
NG_029442.1:g.2417C>T
NG_034110.1:g.7403C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.946C>T MANE Select	NP_079509.5:p.Gln316Ter
ENST00000393818.3:c.946C>T MANE Select	ENSP00000377406.1:p.Gln316Ter
NM_001042529.2:c.946C>T	NP_001035994.1:p.Gln316Ter
NM_001042529.3:c.946C>T	NP_001035994.1:p.Gln316Ter
NM_001042532.3:c.1033C>T	NP_001035997.2:p.Gln345Ter
NM_001042532.4:c.1033C>T	NP_001035997.2:p.Gln345Ter
NM_025233.6:c.946C>T	NP_079509.5:p.Gln316Ter
ENST00000393818.2:c.946C>T	ENSP00000377406.1:p.Gln316Ter
ENST00000421097.6:c.946C>T	ENSP00000393564.2:p.Gln316Ter
ENST00000588353.1:n.192C>T
ENST00000590958.5:c.1033C>T	ENSP00000464814.1:p.Gln345Ter
ENST00000591753.1:n.1170C>T
ENST00000591779.5:c.61C>T	ENSP00000467687.1:p.Gln21Ter
XM_006722116.2:c.1033C>T	XP_006722179.1:p.Gln345Ter
XM_006722116.4:c.1033C>T	XP_006722179.1:p.Gln345Ter
XM_011525300.1:c.946C>T	XP_011523602.1:p.Gln316Ter
XM_011525300.2:c.946C>T	XP_011523602.1:p.Gln316Ter
XM_011525301.1:c.946C>T	XP_011523603.1:p.Gln316Ter
XR_429926.1:n.1439C>T