Canonical Allele Identifier: CA399618733

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42563263C>T , CM000679.2:g.42563263C>T	GRCh38
NC_000017.10:g.40715281C>T , CM000679.1:g.40715281C>T	GRCh37
NC_000017.9:g.37968807C>T	NCBI36
NG_029442.1:g.1204C>T
NG_034110.1:g.6190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.641C>T MANE Select	NP_079509.5:p.Ala214Val
ENST00000393818.3:c.641C>T MANE Select	ENSP00000377406.1:p.Ala214Val
NM_001042529.2:c.641C>T	NP_001035994.1:p.Ala214Val
NM_001042529.3:c.641C>T	NP_001035994.1:p.Ala214Val
NM_001042532.3:c.728C>T	NP_001035997.2:p.Ala243Val
NM_001042532.4:c.728C>T	NP_001035997.2:p.Ala243Val
NM_025233.6:c.641C>T	NP_079509.5:p.Ala214Val
ENST00000393818.2:c.641C>T	ENSP00000377406.1:p.Ala214Val
ENST00000421097.6:c.641C>T	ENSP00000393564.2:p.Ala214Val
ENST00000586771.1:c.641C>T	ENSP00000466838.1:p.Ala214Val
ENST00000590958.5:c.728C>T	ENSP00000464814.1:p.Ala243Val
ENST00000591779.5:c.-245C>T	ENSP00000467687.1:n.-245C>T
XM_006722116.2:c.728C>T	XP_006722179.1:p.Ala243Val
XM_006722116.4:c.728C>T	XP_006722179.1:p.Ala243Val
XM_011525300.1:c.641C>T	XP_011523602.1:p.Ala214Val
XM_011525300.2:c.641C>T	XP_011523602.1:p.Ala214Val
XM_011525301.1:c.641C>T	XP_011523603.1:p.Ala214Val
XR_429926.1:n.1134C>T