Canonical Allele Identifier: CA163298

Gene: ABCA5

Linked Data

• ClinVar Variation Id: 139604
• ClinVar RCV Id: RCV000128545 ; RCV000210729
• dbSNP Id: rs199753304
• gnomAD v3: 17-69253793-C-G
• gnomAD v4: 17-69253793-C-G
• MyVariant Identifiers: chr17:g.67249934C>G (hg19) ; chr17:g.69253793C>G (hg38)
• PubMed: PMID:24831815

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253793C>G , CM000679.2:g.69253793C>G	GRCh38
NC_000017.10:g.67249934C>G , CM000679.1:g.67249934C>G	GRCh37
NC_000017.9:g.64761529C>G	NCBI36
NG_034199.1:g.78390G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392676.8:c.4320+1G>C MANE Select	ENSP00000376443.2:n.4320+1G>C
ENST00000392676.7:c.4320+1G>C	ENSP00000376443.2:n.4320+1G>C
ENST00000586811.1:c.1218+1G>C	ENSP00000465351.1:n.1218+1G>C
ENST00000586995.5:c.3382+1G>C	ENSP00000467251.1:n.3382+1G>C
ENST00000588877.5:c.4320+1G>C	ENSP00000467882.1:n.4320+1G>C
ENST00000591234.5:c.2262+1G>C	ENSP00000465766.1:n.2262+1G>C
NM_018672.4:c.4320+1G>C	NP_061142.2:n.4320+1G>C
NM_172232.3:c.4320+1G>C	NP_758424.1:n.4320+1G>C
NM_172232.4:c.4320+1G>C MANE Select	NP_758424.1:n.4320+1G>C
NM_018672.5:c.4320+1G>C	NP_061142.2:n.4320+1G>C