Canonical Allele Identifier: CA501544005

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249947T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253806T>G , CM000679.2:g.69253806T>G	GRCh38
NC_000017.10:g.67249947T>G , CM000679.1:g.67249947T>G	GRCh37
NC_000017.9:g.64761542T>G	NCBI36
NG_034199.1:g.78377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4308A>C MANE Select	ENSP00000376443.2:p.Gly1436=
ENST00000392676.7:c.4308A>C	ENSP00000376443.2:p.Gly1436=
ENST00000586811.1:c.1206A>C	ENSP00000465351.1:p.Gly402=
ENST00000586995.5:c.3370A>C	ENSP00000467251.1:n.3370A>C
ENST00000588877.5:c.4308A>C	ENSP00000467882.1:p.Gly1436=
ENST00000591234.5:c.2250A>C	ENSP00000465766.1:n.2250A>C
NM_018672.4:c.4308A>C	NP_061142.2:p.Gly1436=
NM_172232.3:c.4308A>C	NP_758424.1:p.Gly1436=
NM_172232.4:c.4308A>C MANE Select	NP_758424.1:p.Gly1436=
NM_018672.5:c.4308A>C	NP_061142.2:p.Gly1436=