Canonical Allele Identifier: CA1181405733
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996015T= , CM000663.2:g.93996015T= GRCh38
NC_000001.10:g.94461571T= , CM000663.1:g.94461571T= GRCh37
NC_000001.9:g.94234159T= NCBI36
NG_009073.1:g.130135A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6816+94A= MANE Select ENSP00000359245.3:n.6816+94A=
ENST00000370225.3:c.6816+94A= ENSP00000359245.3:n.6816+94A=
ENST00000536513.5:c.3192+94A= ENSP00000439707.2:n.3192+94A=
NM_000350.2:c.6816+94A= NP_000341.2:n.6816+94A=
NM_000350.3:c.6816+94A= MANE Select NP_000341.2:n.6816+94A=
Search 100 bp 5'
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