Canonical Allele Identifier: CA8737251

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69274068A>G , CM000679.2:g.69274068A>G	GRCh38
NC_000017.10:g.67270209A>G , CM000679.1:g.67270209A>G	GRCh37
NC_000017.9:g.64781804A>G	NCBI36
NG_034199.1:g.58115T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.2655T>C MANE Select	ENSP00000376443.2:p.Ser885=
ENST00000392676.7:c.2655T>C	ENSP00000376443.2:p.Ser885=
ENST00000586995.5:c.1701T>C	ENSP00000467251.1:n.1701T>C
ENST00000588877.5:c.2655T>C	ENSP00000467882.1:p.Ser885=
ENST00000591234.5:c.597T>C	ENSP00000465766.1:n.597T>C
ENST00000593153.5:c.2655T>C	ENSP00000467448.1:p.Ser885=
NM_018672.4:c.2655T>C	NP_061142.2:p.Ser885=
NM_172232.3:c.2655T>C	NP_758424.1:p.Ser885=
NM_172232.4:c.2655T>C MANE Select	NP_758424.1:p.Ser885=
NM_018672.5:c.2655T>C	NP_061142.2:p.Ser885=