Canonical Allele Identifier: CA1181398398
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001722G= , CM000663.2:g.94001722G= GRCh38
NC_000001.10:g.94467278G= , CM000663.1:g.94467278G= GRCh37
NC_000001.9:g.94239866G= NCBI36
NG_009073.1:g.124428C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+136C= MANE Select ENSP00000359245.3:n.6282+136C=
ENST00000370225.3:c.6282+136C= ENSP00000359245.3:n.6282+136C=
ENST00000465352.1:n.834C=
ENST00000536513.5:c.2658+136C= ENSP00000439707.2:n.2658+136C=
NM_000350.2:c.6282+136C= NP_000341.2:n.6282+136C=
NM_000350.3:c.6282+136C= MANE Select NP_000341.2:n.6282+136C=
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