Canonical Allele Identifier: CA341284060
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94487497T>G (hg19) chr1:g.94021941T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021941T>G , CM000663.2:g.94021941T>G GRCh38
NC_000001.10:g.94487497T>G , CM000663.1:g.94487497T>G GRCh37
NC_000001.9:g.94260085T>G NCBI36
NG_009073.1:g.104209A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4678A>C MANE Select ENSP00000359245.3:p.Ile1560Leu
ENST00000370225.3:c.4678A>C ENSP00000359245.3:p.Ile1560Leu
ENST00000460514.1:n.172A>C
ENST00000536513.5:c.1054A>C ENSP00000439707.2:p.Ile352Leu
NM_000350.2:c.4678A>C NP_000341.2:p.Ile1560Leu
NM_000350.3:c.4678A>C MANE Select NP_000341.2:p.Ile1560Leu
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