Canonical Allele Identifier: CA400824173
Gene: ABCA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.67249763G>C (hg19) chr17:g.69253622G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253622G>C , CM000679.2:g.69253622G>C GRCh38
NC_000017.10:g.67249763G>C , CM000679.1:g.67249763G>C GRCh37
NC_000017.9:g.64761358G>C NCBI36
NG_034199.1:g.78561C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4366C>G MANE Select ENSP00000376443.2:p.Leu1456Val
ENST00000392676.7:c.4366C>G ENSP00000376443.2:p.Leu1456Val
ENST00000586811.1:c.1264C>G ENSP00000465351.1:p.Leu422Val
ENST00000586995.5:c.3428C>G ENSP00000467251.1:n.3428C>G
ENST00000588877.5:c.4366C>G ENSP00000467882.1:p.Leu1456Val
ENST00000591234.5:c.2308C>G ENSP00000465766.1:n.2308C>G
NM_018672.4:c.4366C>G NP_061142.2:p.Leu1456Val
NM_172232.3:c.4366C>G NP_758424.1:p.Leu1456Val
NM_172232.4:c.4366C>G MANE Select NP_758424.1:p.Leu1456Val
NM_018672.5:c.4366C>G NP_061142.2:p.Leu1456Val
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