Canonical Allele Identifier: CA1181414519
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660133694
gnomAD v4: 1-94029390-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029390C>T , CM000663.2:g.94029390C>T GRCh38
NC_000001.10:g.94494946C>T , CM000663.1:g.94494946C>T GRCh37
NC_000001.9:g.94267534C>T NCBI36
NG_009073.1:g.96760G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+55G>A MANE Select ENSP00000359245.3:n.4539+55G>A
ENST00000370225.3:c.4539+55G>A ENSP00000359245.3:n.4539+55G>A
ENST00000536513.5:c.915+55G>A ENSP00000439707.2:n.915+55G>A
NM_000350.2:c.4539+55G>A NP_000341.2:n.4539+55G>A
NM_000350.3:c.4539+55G>A MANE Select NP_000341.2:n.4539+55G>A
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