Canonical Allele Identifier: CA8577888
Gene: COASY HGNC NCBI

Linked Data

ClinVar Variation Id: 441109
dbSNP Id: rs147852474

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42562622C>T , CM000679.2:g.42562622C>T GRCh38
NC_000017.10:g.40714640C>T , CM000679.1:g.40714640C>T GRCh37
NC_000017.9:g.37968166C>T NCBI36
NG_029442.1:g.563C>T
NG_034110.1:g.5549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393818.3:c.-1C>T MANE Select ENSP00000377406.1:n.-1C>T
ENST00000393818.2:c.-1C>T ENSP00000377406.1:n.-1C>T
ENST00000421097.6:c.-1C>T ENSP00000393564.2:n.-1C>T
ENST00000585811.1:c.-1C>T ENSP00000467174.1:n.-1C>T
ENST00000585909.1:c.87C>T ENSP00000467519.1:p.Ser29=
ENST00000586771.1:c.-1C>T ENSP00000466838.1:n.-1C>T
ENST00000587157.1:c.76+135C>T ENSP00000467322.1:n.76+135C>T
ENST00000587214.1:c.-1C>T ENSP00000468583.1:n.-1C>T
ENST00000587858.5:c.87C>T ENSP00000468755.1:p.Ser29=
ENST00000590958.5:c.87C>T ENSP00000464814.1:p.Ser29=
ENST00000591779.5:c.-575-311C>T ENSP00000467687.1:n.-575-311C>T
NM_001042529.2:c.-1C>T NP_001035994.1:n.-1C>T
NM_001042532.3:c.87C>T NP_001035997.2:p.Ser29=
NM_025233.6:c.-1C>T NP_079509.5:n.-1C>T
XM_006722116.2:c.87C>T XP_006722179.1:p.Ser29=
XM_011525300.1:c.-1C>T XP_011523602.1:n.-1C>T
XM_011525301.1:c.-1C>T XP_011523603.1:n.-1C>T
XR_429926.1:n.493C>T
XM_006722116.4:c.87C>T XP_006722179.1:p.Ser29=
XM_011525300.2:c.-1C>T XP_011523602.1:n.-1C>T
NM_025233.7:c.-1C>T MANE Select NP_079509.5:n.-1C>T
NM_001042529.3:c.-1C>T NP_001035994.1:n.-1C>T
NM_001042532.4:c.87C>T NP_001035997.2:p.Ser29=