Canonical Allele Identifier: CA1004547602
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659519307
gnomAD v3: 1-94010674-G-A
gnomAD v4: 1-94010674-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010674G>A , CM000663.2:g.94010674G>A GRCh38
NC_000001.10:g.94476230G>A , CM000663.1:g.94476230G>A GRCh37
NC_000001.9:g.94248818G>A NCBI36
NG_009073.1:g.115476C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+126C>T MANE Select ENSP00000359245.3:n.5714+126C>T
ENST00000370225.3:c.5714+126C>T ENSP00000359245.3:n.5714+126C>T
ENST00000465352.1:n.130+126C>T
ENST00000536513.5:c.2090+126C>T ENSP00000439707.2:n.2090+126C>T
NM_000350.2:c.5714+126C>T NP_000341.2:n.5714+126C>T
NM_000350.3:c.5714+126C>T MANE Select NP_000341.2:n.5714+126C>T
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