Canonical Allele Identifier: CA1181398474
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001835G= , CM000663.2:g.94001835G= GRCh38
NC_000001.10:g.94467391G= , CM000663.1:g.94467391G= GRCh37
NC_000001.9:g.94239979G= NCBI36
NG_009073.1:g.124315C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+23C= MANE Select ENSP00000359245.3:n.6282+23C=
ENST00000370225.3:c.6282+23C= ENSP00000359245.3:n.6282+23C=
ENST00000465352.1:n.721C=
ENST00000536513.5:c.2658+23C= ENSP00000439707.2:n.2658+23C=
NM_000350.2:c.6282+23C= NP_000341.2:n.6282+23C=
NM_000350.3:c.6282+23C= MANE Select NP_000341.2:n.6282+23C=