Canonical Allele Identifier: CA2260540600
Community Standard Title: NM_025233.7(COASY):c.972A= (p.Thr324=)
Gene: COASY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42564502A= , CM000679.2:g.42564502A= GRCh38
NC_000017.10:g.40716520A= , CM000679.1:g.40716520A= GRCh37
NC_000017.9:g.37970046A= NCBI36
NG_029442.1:g.2443A=
NG_034110.1:g.7429A=

Transcript Alleles

HGVS Amino-acid Change
NM_025233.7:c.972A= MANE Select NP_079509.5:p.Thr324=
ENST00000393818.3:c.972A= MANE Select ENSP00000377406.1:p.Thr324=
NM_001042529.2:c.972A= NP_001035994.1:p.Thr324=
NM_001042529.3:c.972A= NP_001035994.1:p.Thr324=
NM_001042532.3:c.1059A= NP_001035997.2:p.Thr353=
NM_001042532.4:c.1059A= NP_001035997.2:p.Thr353=
NM_025233.6:c.972A= NP_079509.5:p.Thr324=
ENST00000393818.2:c.972A= ENSP00000377406.1:p.Thr324=
ENST00000421097.6:c.972A= ENSP00000393564.2:p.Thr324=
ENST00000588353.1:n.218A=
ENST00000590958.5:c.1059A= ENSP00000464814.1:p.Thr353=
ENST00000591753.1:n.1196A=
ENST00000591779.5:c.87A= ENSP00000467687.1:p.Thr29=
XM_006722116.2:c.1059A= XP_006722179.1:p.Thr353=
XM_006722116.4:c.1059A= XP_006722179.1:p.Thr353=
XM_011525300.1:c.972A= XP_011523602.1:p.Thr324=
XM_011525300.2:c.972A= XP_011523602.1:p.Thr324=
XM_011525301.1:c.972A= XP_011523603.1:p.Thr324=
XR_429926.1:n.1465A=