Canonical Allele Identifier: CA1181408597
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021693A= , CM000663.2:g.94021693A= GRCh38
NC_000001.10:g.94487249A= , CM000663.1:g.94487249A= GRCh37
NC_000001.9:g.94259837A= NCBI36
NG_009073.1:g.104457T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4795T= MANE Select ENSP00000359245.3:p.Ser1599=
ENST00000370225.3:c.4795T= ENSP00000359245.3:p.Ser1599=
ENST00000460514.1:n.289T=
ENST00000536513.5:c.1171T= ENSP00000439707.2:p.Ser391=
NM_000350.2:c.4795T= NP_000341.2:p.Ser1599=
NM_000350.3:c.4795T= MANE Select NP_000341.2:p.Ser1599=
Search 100 bp 5'
Search 100 bp 3'