Canonical Allele Identifier: CA1181398401
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659189212
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001728C>A , CM000663.2:g.94001728C>A GRCh38
NC_000001.10:g.94467284C>A , CM000663.1:g.94467284C>A GRCh37
NC_000001.9:g.94239872C>A NCBI36
NG_009073.1:g.124422G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+130G>T MANE Select ENSP00000359245.3:n.6282+130G>T
ENST00000370225.3:c.6282+130G>T ENSP00000359245.3:n.6282+130G>T
ENST00000465352.1:n.828G>T
ENST00000536513.5:c.2658+130G>T ENSP00000439707.2:n.2658+130G>T
NM_000350.2:c.6282+130G>T NP_000341.2:n.6282+130G>T
NM_000350.3:c.6282+130G>T MANE Select NP_000341.2:n.6282+130G>T
Search 100 bp 5'
Search 100 bp 3'