Canonical Allele Identifier: CA2964832014
Community Standard Title: NM_025233.7(COASY):c.701-89A>G
Gene: COASY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42563872A>G , CM000679.2:g.42563872A>G GRCh38
NC_000017.10:g.40715890A>G , CM000679.1:g.40715890A>G GRCh37
NC_000017.9:g.37969416A>G NCBI36
NG_029442.1:g.1813A>G
NG_034110.1:g.6799A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025233.7:c.701-89A>G MANE Select NP_079509.5:n.701-89A>G
ENST00000393818.3:c.701-89A>G MANE Select ENSP00000377406.1:n.701-89A>G
NM_001042529.2:c.701-89A>G NP_001035994.1:n.701-89A>G
NM_001042529.3:c.701-89A>G NP_001035994.1:n.701-89A>G
NM_001042532.3:c.788-89A>G NP_001035997.2:n.788-89A>G
NM_001042532.4:c.788-89A>G NP_001035997.2:n.788-89A>G
NM_025233.6:c.701-89A>G NP_079509.5:n.701-89A>G
ENST00000393818.2:c.701-89A>G ENSP00000377406.1:n.701-89A>G
ENST00000421097.6:c.701-89A>G ENSP00000393564.2:n.701-89A>G
ENST00000590958.5:c.788-89A>G ENSP00000464814.1:n.788-89A>G
ENST00000591753.1:n.566A>G
ENST00000591779.5:c.-185-89A>G ENSP00000467687.1:n.-185-89A>G
XM_006722116.2:c.788-89A>G XP_006722179.1:n.788-89A>G
XM_006722116.4:c.788-89A>G XP_006722179.1:n.788-89A>G
XM_011525300.1:c.701-89A>G XP_011523602.1:n.701-89A>G
XM_011525300.2:c.701-89A>G XP_011523602.1:n.701-89A>G
XM_011525301.1:c.701-89A>G XP_011523603.1:n.701-89A>G
XR_429926.1:n.1194-89A>G