Canonical Allele Identifier: CA501543949

Gene: ABCA5

Linked Data

• gnomAD v4: 17-69253800-T-C
• MyVariant Identifiers: chr17:g.67249941T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253800T>C , CM000679.2:g.69253800T>C	GRCh38
NC_000017.10:g.67249941T>C , CM000679.1:g.67249941T>C	GRCh37
NC_000017.9:g.64761536T>C	NCBI36
NG_034199.1:g.78383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4314A>G MANE Select	ENSP00000376443.2:p.Lys1438=
ENST00000392676.7:c.4314A>G	ENSP00000376443.2:p.Lys1438=
ENST00000586811.1:c.1212A>G	ENSP00000465351.1:p.Lys404=
ENST00000586995.5:c.3376A>G	ENSP00000467251.1:n.3376A>G
ENST00000588877.5:c.4314A>G	ENSP00000467882.1:p.Lys1438=
ENST00000591234.5:c.2256A>G	ENSP00000465766.1:n.2256A>G
NM_018672.4:c.4314A>G	NP_061142.2:p.Lys1438=
NM_172232.3:c.4314A>G	NP_758424.1:p.Lys1438=
NM_172232.4:c.4314A>G MANE Select	NP_758424.1:p.Lys1438=
NM_018672.5:c.4314A>G	NP_061142.2:p.Lys1438=