Canonical Allele Identifier: CA8736741

Gene: ABCA5

Linked Data

• dbSNP Id: rs754069144
• ExAC: 17:67249799 C / T
• gnomAD v2: 17-67249799-C-T
• gnomAD v4: 17-69253658-C-T
• MyVariant Identifiers: chr17:g.67249799C>T (hg19) ; chr17:g.69253658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253658C>T , CM000679.2:g.69253658C>T	GRCh38
NC_000017.10:g.67249799C>T , CM000679.1:g.67249799C>T	GRCh37
NC_000017.9:g.64761394C>T	NCBI36
NG_034199.1:g.78525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4330G>A MANE Select	ENSP00000376443.2:p.Ala1444Thr
ENST00000392676.7:c.4330G>A	ENSP00000376443.2:p.Ala1444Thr
ENST00000586811.1:c.1228G>A	ENSP00000465351.1:p.Ala410Thr
ENST00000586995.5:c.3392G>A	ENSP00000467251.1:n.3392G>A
ENST00000588877.5:c.4330G>A	ENSP00000467882.1:p.Ala1444Thr
ENST00000591234.5:c.2272G>A	ENSP00000465766.1:n.2272G>A
NM_018672.4:c.4330G>A	NP_061142.2:p.Ala1444Thr
NM_172232.3:c.4330G>A	NP_758424.1:p.Ala1444Thr
NM_172232.4:c.4330G>A MANE Select	NP_758424.1:p.Ala1444Thr
NM_018672.5:c.4330G>A	NP_061142.2:p.Ala1444Thr