Canonical Allele Identifier: CA1181426528
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056808T= , CM000663.2:g.94056808T= GRCh38
NC_000001.10:g.94522364T= , CM000663.1:g.94522364T= GRCh37
NC_000001.9:g.94294952T= NCBI36
NG_009073.1:g.69342A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2175A= MANE Select ENSP00000359245.3:p.Leu725=
ENST00000649773.1:c.2161-1493A= ENSP00000496882.1:n.2161-1493A=
ENST00000370225.3:c.2175A= ENSP00000359245.3:p.Leu725=
ENST00000536513.5:c.-65+6366A= ENSP00000439707.2:n.-65+6366A=
NM_000350.2:c.2175A= NP_000341.2:p.Leu725=
NM_000350.3:c.2175A= MANE Select NP_000341.2:p.Leu725=
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