Canonical Allele Identifier: CA1181398396
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001720A= , CM000663.2:g.94001720A= GRCh38
NC_000001.10:g.94467276A= , CM000663.1:g.94467276A= GRCh37
NC_000001.9:g.94239864A= NCBI36
NG_009073.1:g.124430T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+138T= MANE Select ENSP00000359245.3:n.6282+138T=
ENST00000370225.3:c.6282+138T= ENSP00000359245.3:n.6282+138T=
ENST00000465352.1:n.836T=
ENST00000536513.5:c.2658+138T= ENSP00000439707.2:n.2658+138T=
NM_000350.2:c.6282+138T= NP_000341.2:n.6282+138T=
NM_000350.3:c.6282+138T= MANE Select NP_000341.2:n.6282+138T=
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