Canonical Allele Identifier: CA958425
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs779659025
ExAC: 1:94528297 A / G
MyVariant Identifiers: chr1:g.94528297A>G (hg19) chr1:g.94062741A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062741A>G , CM000663.2:g.94062741A>G GRCh38
NC_000001.10:g.94528297A>G , CM000663.1:g.94528297A>G GRCh37
NC_000001.9:g.94300885A>G NCBI36
NG_009073.1:g.63409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1773T>C MANE Select ENSP00000359245.3:p.Ser591=
ENST00000649773.1:c.1773T>C ENSP00000496882.1:p.Ser591=
ENST00000370225.3:c.1773T>C ENSP00000359245.3:p.Ser591=
ENST00000536513.5:c.-65+433T>C ENSP00000439707.2:n.-65+433T>C
NM_000350.2:c.1773T>C NP_000341.2:p.Ser591=
NM_000350.3:c.1773T>C MANE Select NP_000341.2:p.Ser591=
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Search 100 bp 3'