Canonical Allele Identifier: CA2272580249

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253841G= , CM000679.2:g.69253841G=	GRCh38
NC_000017.10:g.67249982G= , CM000679.1:g.67249982G=	GRCh37
NC_000017.9:g.64761577G=	NCBI36
NG_034199.1:g.78342C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4273C= MANE Select	ENSP00000376443.2:p.His1425=
ENST00000392676.7:c.4273C=	ENSP00000376443.2:p.His1425=
ENST00000586811.1:c.1171C=	ENSP00000465351.1:p.His391=
ENST00000586995.5:c.3335C=	ENSP00000467251.1:n.3335C=
ENST00000588877.5:c.4273C=	ENSP00000467882.1:p.His1425=
ENST00000591234.5:c.2215C=	ENSP00000465766.1:n.2215C=
NM_018672.4:c.4273C=	NP_061142.2:p.His1425=
NM_172232.3:c.4273C=	NP_758424.1:p.His1425=
NM_172232.4:c.4273C= MANE Select	NP_758424.1:p.His1425=
NM_018672.5:c.4273C=	NP_061142.2:p.His1425=