Canonical Allele Identifier: CA8736872

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69255743A>G , CM000679.2:g.69255743A>G	GRCh38
NC_000017.10:g.67251884A>G , CM000679.1:g.67251884A>G	GRCh37
NC_000017.9:g.64763479A>G	NCBI36
NG_034199.1:g.76440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.3966T>C MANE Select	ENSP00000376443.2:p.Cys1322=
ENST00000392676.7:c.3966T>C	ENSP00000376443.2:p.Cys1322=
ENST00000586811.1:c.864T>C	ENSP00000465351.1:p.Cys288=
ENST00000586995.5:c.3028T>C	ENSP00000467251.1:n.3028T>C
ENST00000588877.5:c.3966T>C	ENSP00000467882.1:p.Cys1322=
ENST00000591234.5:c.1908T>C	ENSP00000465766.1:n.1908T>C
NM_018672.4:c.3966T>C	NP_061142.2:p.Cys1322=
NM_172232.3:c.3966T>C	NP_758424.1:p.Cys1322=
NM_172232.4:c.3966T>C MANE Select	NP_758424.1:p.Cys1322=
NM_018672.5:c.3966T>C	NP_061142.2:p.Cys1322=