Canonical Allele Identifier: CA1181402684
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1571247132
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007544A>G , CM000663.2:g.94007544A>G GRCh38
NC_000001.10:g.94473100A>G , CM000663.1:g.94473100A>G GRCh37
NC_000001.9:g.94245688A>G NCBI36
NG_009073.1:g.118606T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6005+90T>C MANE Select ENSP00000359245.3:n.6005+90T>C
ENST00000370225.3:c.6005+90T>C ENSP00000359245.3:n.6005+90T>C
ENST00000465352.1:n.421+90T>C
ENST00000484388.1:n.119+90T>C
ENST00000536513.5:c.2381+90T>C ENSP00000439707.2:n.2381+90T>C
NM_000350.2:c.6005+90T>C NP_000341.2:n.6005+90T>C
NM_000350.3:c.6005+90T>C MANE Select NP_000341.2:n.6005+90T>C
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