Canonical Allele Identifier: CA2272580251

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253848T= , CM000679.2:g.69253848T=	GRCh38
NC_000017.10:g.67249989T= , CM000679.1:g.67249989T=	GRCh37
NC_000017.9:g.64761584T=	NCBI36
NG_034199.1:g.78335A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4266A= MANE Select	ENSP00000376443.2:p.Leu1422=
ENST00000392676.7:c.4266A=	ENSP00000376443.2:p.Leu1422=
ENST00000586811.1:c.1164A=	ENSP00000465351.1:p.Leu388=
ENST00000586995.5:c.3328A=	ENSP00000467251.1:n.3328A=
ENST00000588877.5:c.4266A=	ENSP00000467882.1:p.Leu1422=
ENST00000591234.5:c.2208A=	ENSP00000465766.1:n.2208A=
NM_018672.4:c.4266A=	NP_061142.2:p.Leu1422=
NM_172232.3:c.4266A=	NP_758424.1:p.Leu1422=
NM_172232.4:c.4266A= MANE Select	NP_758424.1:p.Leu1422=
NM_018672.5:c.4266A=	NP_061142.2:p.Leu1422=