Canonical Allele Identifier: CA400824418

Gene: ABCA5

Linked Data

• MyVariant Identifiers: chr17:g.67249942T>A (hg19) ; chr17:g.69253801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253801T>A , CM000679.2:g.69253801T>A	GRCh38
NC_000017.10:g.67249942T>A , CM000679.1:g.67249942T>A	GRCh37
NC_000017.9:g.64761537T>A	NCBI36
NG_034199.1:g.78382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4313A>T MANE Select	ENSP00000376443.2:p.Lys1438Ile
ENST00000392676.7:c.4313A>T	ENSP00000376443.2:p.Lys1438Ile
ENST00000586811.1:c.1211A>T	ENSP00000465351.1:p.Lys404Ile
ENST00000586995.5:c.3375A>T	ENSP00000467251.1:n.3375A>T
ENST00000588877.5:c.4313A>T	ENSP00000467882.1:p.Lys1438Ile
ENST00000591234.5:c.2255A>T	ENSP00000465766.1:n.2255A>T
NM_018672.4:c.4313A>T	NP_061142.2:p.Lys1438Ile
NM_172232.3:c.4313A>T	NP_758424.1:p.Lys1438Ile
NM_172232.4:c.4313A>T MANE Select	NP_758424.1:p.Lys1438Ile
NM_018672.5:c.4313A>T	NP_061142.2:p.Lys1438Ile