Canonical Allele Identifier: CA2574438195
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046819T>G , CM000663.2:g.94046819T>G GRCh38
NC_000001.10:g.94512375T>G , CM000663.1:g.94512375T>G GRCh37
NC_000001.9:g.94284963T>G NCBI36
NG_009073.1:g.79331A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+100A>C MANE Select ENSP00000359245.3:n.2918+100A>C
ENST00000649773.1:c.2696+100A>C ENSP00000496882.1:n.2696+100A>C
ENST00000370225.3:c.2918+100A>C ENSP00000359245.3:n.2918+100A>C
ENST00000536513.5:c.-64-6730A>C ENSP00000439707.2:n.-64-6730A>C
NM_000350.2:c.2918+100A>C NP_000341.2:n.2918+100A>C
NM_000350.3:c.2918+100A>C MANE Select NP_000341.2:n.2918+100A>C
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