Canonical Allele Identifier: CA399617077

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42562837A>G , CM000679.2:g.42562837A>G	GRCh38
NC_000017.10:g.40714855A>G , CM000679.1:g.40714855A>G	GRCh37
NC_000017.9:g.37968381A>G	NCBI36
NG_029442.1:g.778A>G
NG_034110.1:g.5764A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.215A>G MANE Select	NP_079509.5:p.Tyr72Cys
ENST00000393818.3:c.215A>G MANE Select	ENSP00000377406.1:p.Tyr72Cys
NM_001042529.2:c.215A>G	NP_001035994.1:p.Tyr72Cys
NM_001042529.3:c.215A>G	NP_001035994.1:p.Tyr72Cys
NM_001042532.3:c.302A>G	NP_001035997.2:p.Tyr101Cys
NM_001042532.4:c.302A>G	NP_001035997.2:p.Tyr101Cys
NM_025233.6:c.215A>G	NP_079509.5:p.Tyr72Cys
ENST00000393818.2:c.215A>G	ENSP00000377406.1:p.Tyr72Cys
ENST00000421097.6:c.215A>G	ENSP00000393564.2:p.Tyr72Cys
ENST00000585811.1:c.215A>G	ENSP00000467174.1:p.Tyr72Cys
ENST00000586771.1:c.215A>G	ENSP00000466838.1:p.Tyr72Cys
ENST00000587157.1:c.77-96A>G	ENSP00000467322.1:n.77-96A>G
ENST00000587214.1:c.215A>G	ENSP00000468583.1:p.Tyr72Cys
ENST00000587858.5:c.302A>G	ENSP00000468755.1:p.Tyr101Cys
ENST00000590958.5:c.302A>G	ENSP00000464814.1:p.Tyr101Cys
ENST00000591779.5:c.-575-96A>G	ENSP00000467687.1:n.-575-96A>G
XM_006722116.2:c.302A>G	XP_006722179.1:p.Tyr101Cys
XM_006722116.4:c.302A>G	XP_006722179.1:p.Tyr101Cys
XM_011525300.1:c.215A>G	XP_011523602.1:p.Tyr72Cys
XM_011525300.2:c.215A>G	XP_011523602.1:p.Tyr72Cys
XM_011525301.1:c.215A>G	XP_011523603.1:p.Tyr72Cys
XR_429926.1:n.708A>G