Canonical Allele Identifier: CA1181420131
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041560A= , CM000663.2:g.94041560A= GRCh38
NC_000001.10:g.94507116A= , CM000663.1:g.94507116A= GRCh37
NC_000001.9:g.94279704A= NCBI36
NG_009073.1:g.84590T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-158T= MANE Select ENSP00000359245.3:n.3329-158T=
ENST00000370225.3:c.3329-158T= ENSP00000359245.3:n.3329-158T=
ENST00000536513.5:c.-64-1471T= ENSP00000439707.2:n.-64-1471T=
NM_000350.2:c.3329-158T= NP_000341.2:n.3329-158T=
NM_000350.3:c.3329-158T= MANE Select NP_000341.2:n.3329-158T=
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