Canonical Allele Identifier: CA400824152

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249758A>T (hg19) ; chr17:g.69253617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253617A>T , CM000679.2:g.69253617A>T	GRCh38
NC_000017.10:g.67249758A>T , CM000679.1:g.67249758A>T	GRCh37
NC_000017.9:g.64761353A>T	NCBI36
NG_034199.1:g.78566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4371T>A MANE Select	ENSP00000376443.2:p.Asp1457Glu
ENST00000392676.7:c.4371T>A	ENSP00000376443.2:p.Asp1457Glu
ENST00000586811.1:c.1269T>A	ENSP00000465351.1:p.Asp423Glu
ENST00000586995.5:c.3433T>A	ENSP00000467251.1:n.3433T>A
ENST00000588877.5:c.4371T>A	ENSP00000467882.1:p.Asp1457Glu
ENST00000591234.5:c.2313T>A	ENSP00000465766.1:n.2313T>A
NM_018672.4:c.4371T>A	NP_061142.2:p.Asp1457Glu
NM_172232.3:c.4371T>A	NP_758424.1:p.Asp1457Glu
NM_172232.4:c.4371T>A MANE Select	NP_758424.1:p.Asp1457Glu
NM_018672.5:c.4371T>A	NP_061142.2:p.Asp1457Glu