Canonical Allele Identifier: CA2272580157

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253651C= , CM000679.2:g.69253651C=	GRCh38
NC_000017.10:g.67249792C= , CM000679.1:g.67249792C=	GRCh37
NC_000017.9:g.64761387C=	NCBI36
NG_034199.1:g.78532G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4337G= MANE Select	ENSP00000376443.2:p.Ser1446=
ENST00000392676.7:c.4337G=	ENSP00000376443.2:p.Ser1446=
ENST00000586811.1:c.1235G=	ENSP00000465351.1:p.Ser412=
ENST00000586995.5:c.3399G=	ENSP00000467251.1:n.3399G=
ENST00000588877.5:c.4337G=	ENSP00000467882.1:p.Ser1446=
ENST00000591234.5:c.2279G=	ENSP00000465766.1:n.2279G=
NM_018672.4:c.4337G=	NP_061142.2:p.Ser1446=
NM_172232.3:c.4337G=	NP_758424.1:p.Ser1446=
NM_172232.4:c.4337G= MANE Select	NP_758424.1:p.Ser1446=
NM_018672.5:c.4337G=	NP_061142.2:p.Ser1446=