Canonical Allele Identifier: CA293359863

Gene: ABCA5

Linked Data

• dbSNP Id: rs181482223
• gnomAD v3: 17-69253942-T-C
• gnomAD v4: 17-69253942-T-C
• MyVariant Identifiers: chr17:g.67250083T>C (hg19) ; chr17:g.69253942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253942T>C , CM000679.2:g.69253942T>C	GRCh38
NC_000017.10:g.67250083T>C , CM000679.1:g.67250083T>C	GRCh37
NC_000017.9:g.64761678T>C	NCBI36
NG_034199.1:g.78241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-73A>G MANE Select	ENSP00000376443.2:n.4245-73A>G
ENST00000392676.7:c.4245-73A>G	ENSP00000376443.2:n.4245-73A>G
ENST00000586811.1:c.1143-73A>G	ENSP00000465351.1:n.1143-73A>G
ENST00000586995.5:c.3307-73A>G	ENSP00000467251.1:n.3307-73A>G
ENST00000588877.5:c.4245-73A>G	ENSP00000467882.1:n.4245-73A>G
ENST00000591234.5:c.2187-73A>G	ENSP00000465766.1:n.2187-73A>G
NM_018672.4:c.4245-73A>G	NP_061142.2:n.4245-73A>G
NM_172232.3:c.4245-73A>G	NP_758424.1:n.4245-73A>G
NM_172232.4:c.4245-73A>G MANE Select	NP_758424.1:n.4245-73A>G
NM_018672.5:c.4245-73A>G	NP_061142.2:n.4245-73A>G