Canonical Allele Identifier: CA501544348

Gene: ABCA5

Linked Data

• dbSNP Id: rs1271482711
• gnomAD v3: 17-69253857-T-C
• gnomAD v4: 17-69253857-T-C
• MyVariant Identifiers: chr17:g.67249998T>C (hg19) ; chr17:g.69253857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253857T>C , CM000679.2:g.69253857T>C	GRCh38
NC_000017.10:g.67249998T>C , CM000679.1:g.67249998T>C	GRCh37
NC_000017.9:g.64761593T>C	NCBI36
NG_034199.1:g.78326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4257A>G MANE Select	ENSP00000376443.2:p.Ala1419=
ENST00000392676.7:c.4257A>G	ENSP00000376443.2:p.Ala1419=
ENST00000586811.1:c.1155A>G	ENSP00000465351.1:p.Ala385=
ENST00000586995.5:c.3319A>G	ENSP00000467251.1:n.3319A>G
ENST00000588877.5:c.4257A>G	ENSP00000467882.1:p.Ala1419=
ENST00000591234.5:c.2199A>G	ENSP00000465766.1:n.2199A>G
NM_018672.4:c.4257A>G	NP_061142.2:p.Ala1419=
NM_172232.3:c.4257A>G	NP_758424.1:p.Ala1419=
NM_172232.4:c.4257A>G MANE Select	NP_758424.1:p.Ala1419=
NM_018672.5:c.4257A>G	NP_061142.2:p.Ala1419=