Canonical Allele Identifier: CA1181414520
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029391C= , CM000663.2:g.94029391C= GRCh38
NC_000001.10:g.94494947C= , CM000663.1:g.94494947C= GRCh37
NC_000001.9:g.94267535C= NCBI36
NG_009073.1:g.96759G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+54G= MANE Select ENSP00000359245.3:n.4539+54G=
ENST00000370225.3:c.4539+54G= ENSP00000359245.3:n.4539+54G=
ENST00000536513.5:c.915+54G= ENSP00000439707.2:n.915+54G=
NM_000350.2:c.4539+54G= NP_000341.2:n.4539+54G=
NM_000350.3:c.4539+54G= MANE Select NP_000341.2:n.4539+54G=
Search 100 bp 5'
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