Canonical Allele Identifier: CA1181419991
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041166C= , CM000663.2:g.94041166C= GRCh38
NC_000001.10:g.94506722C= , CM000663.1:g.94506722C= GRCh37
NC_000001.9:g.94279310C= NCBI36
NG_009073.1:g.84984G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3522+43G= MANE Select ENSP00000359245.3:n.3522+43G=
ENST00000370225.3:c.3522+43G= ENSP00000359245.3:n.3522+43G=
ENST00000536513.5:c.-64-1077G= ENSP00000439707.2:n.-64-1077G=
NM_000350.2:c.3522+43G= NP_000341.2:n.3522+43G=
NM_000350.3:c.3522+43G= MANE Select NP_000341.2:n.3522+43G=
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