Canonical Allele Identifier: CA1181430033
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067472G= , CM000663.2:g.94067472G= GRCh38
NC_000001.10:g.94533028G= , CM000663.1:g.94533028G= GRCh37
NC_000001.9:g.94305616G= NCBI36
NG_009073.1:g.58678C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1555-4155C= MANE Select ENSP00000359245.3:n.1555-4155C=
ENST00000649773.1:c.1555-4155C= ENSP00000496882.1:n.1555-4155C=
ENST00000370225.3:c.1555-4155C= ENSP00000359245.3:n.1555-4155C=
NM_000350.2:c.1555-4155C= NP_000341.2:n.1555-4155C=
NM_000350.3:c.1555-4155C= MANE Select NP_000341.2:n.1555-4155C=
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