Canonical Allele Identifier: CA8578226

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42564899G>C , CM000679.2:g.42564899G>C	GRCh38
NC_000017.10:g.40716917G>C , CM000679.1:g.40716917G>C	GRCh37
NC_000017.9:g.37970443G>C	NCBI36
NG_029442.1:g.2840G>C
NG_034110.1:g.7826G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.1237+1G>C MANE Select	NP_079509.5:n.1237+1G>C
ENST00000393818.3:c.1237+1G>C MANE Select	ENSP00000377406.1:n.1237+1G>C
NM_001042529.2:c.1237+1G>C	NP_001035994.1:n.1237+1G>C
NM_001042529.3:c.1237+1G>C	NP_001035994.1:n.1237+1G>C
NM_001042532.3:c.1324+1G>C	NP_001035997.2:n.1324+1G>C
NM_001042532.4:c.1324+1G>C	NP_001035997.2:n.1324+1G>C
NM_025233.6:c.1237+1G>C	NP_079509.5:n.1237+1G>C
ENST00000393818.2:c.1237+1G>C	ENSP00000377406.1:n.1237+1G>C
ENST00000421097.6:c.1237+1G>C	ENSP00000393564.2:n.1237+1G>C
ENST00000590958.5:c.1324+1G>C	ENSP00000464814.1:n.1324+1G>C
ENST00000591753.1:n.1461+1G>C
XM_006722116.2:c.1324+1G>C	XP_006722179.1:n.1324+1G>C
XM_006722116.4:c.1324+1G>C	XP_006722179.1:n.1324+1G>C
XM_011525300.1:c.1237+1G>C	XP_011523602.1:n.1237+1G>C
XM_011525300.2:c.1237+1G>C	XP_011523602.1:n.1237+1G>C
XM_011525301.1:c.1237+1G>C	XP_011523603.1:n.1237+1G>C
XR_429926.1:n.1541-84G>C