Canonical Allele Identifier: CA1181407989
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021060C= , CM000663.2:g.94021060C= GRCh38
NC_000001.10:g.94486616C= , CM000663.1:g.94486616C= GRCh37
NC_000001.9:g.94259204C= NCBI36
NG_009073.1:g.105090G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+180G= MANE Select ENSP00000359245.3:n.5018+180G=
ENST00000370225.3:c.5018+180G= ENSP00000359245.3:n.5018+180G=
ENST00000460514.1:n.512+180G=
ENST00000470771.1:n.128+180G=
ENST00000536513.5:c.1394+180G= ENSP00000439707.2:n.1394+180G=
NM_000350.2:c.5018+180G= NP_000341.2:n.5018+180G=
NM_000350.3:c.5018+180G= MANE Select NP_000341.2:n.5018+180G=
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