Canonical Allele Identifier: CA2573339478
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041090A>G , CM000663.2:g.94041090A>G GRCh38
NC_000001.10:g.94506646A>G , CM000663.1:g.94506646A>G GRCh37
NC_000001.9:g.94279234A>G NCBI36
NG_009073.1:g.85060T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+119T>C MANE Select ENSP00000359245.3:n.3522+119T>C
ENST00000370225.3:c.3522+119T>C ENSP00000359245.3:n.3522+119T>C
ENST00000536513.5:c.-64-1001T>C ENSP00000439707.2:n.-64-1001T>C
NM_000350.2:c.3522+119T>C NP_000341.2:n.3522+119T>C
NM_000350.3:c.3522+119T>C MANE Select NP_000341.2:n.3522+119T>C
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