Canonical Allele Identifier: CA290771340

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42563959A>C , CM000679.2:g.42563959A>C	GRCh38
NC_000017.10:g.40715977A>C , CM000679.1:g.40715977A>C	GRCh37
NC_000017.9:g.37969503A>C	NCBI36
NG_029442.1:g.1900A>C
NG_034110.1:g.6886A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.701-2A>C MANE Select	NP_079509.5:n.701-2A>C
ENST00000393818.3:c.701-2A>C MANE Select	ENSP00000377406.1:n.701-2A>C
NM_001042529.2:c.701-2A>C	NP_001035994.1:n.701-2A>C
NM_001042529.3:c.701-2A>C	NP_001035994.1:n.701-2A>C
NM_001042532.3:c.788-2A>C	NP_001035997.2:n.788-2A>C
NM_001042532.4:c.788-2A>C	NP_001035997.2:n.788-2A>C
NM_025233.6:c.701-2A>C	NP_079509.5:n.701-2A>C
ENST00000393818.2:c.701-2A>C	ENSP00000377406.1:n.701-2A>C
ENST00000421097.6:c.701-2A>C	ENSP00000393564.2:n.701-2A>C
ENST00000590958.5:c.788-2A>C	ENSP00000464814.1:n.788-2A>C
ENST00000591753.1:n.653A>C
ENST00000591779.5:c.-185-2A>C	ENSP00000467687.1:n.-185-2A>C
XM_006722116.2:c.788-2A>C	XP_006722179.1:n.788-2A>C
XM_006722116.4:c.788-2A>C	XP_006722179.1:n.788-2A>C
XM_011525300.1:c.701-2A>C	XP_011523602.1:n.701-2A>C
XM_011525300.2:c.701-2A>C	XP_011523602.1:n.701-2A>C
XM_011525301.1:c.701-2A>C	XP_011523603.1:n.701-2A>C
XR_429926.1:n.1194-2A>C