Canonical Allele Identifier: CA1181398736
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002001G= , CM000663.2:g.94002001G= GRCh38
NC_000001.10:g.94467557G= , CM000663.1:g.94467557G= GRCh37
NC_000001.9:g.94240145G= NCBI36
NG_009073.1:g.124149C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-9C= MANE Select ENSP00000359245.3:n.6148-9C=
ENST00000370225.3:c.6148-9C= ENSP00000359245.3:n.6148-9C=
ENST00000465352.1:n.564-9C=
ENST00000536513.5:c.2524-9C= ENSP00000439707.2:n.2524-9C=
NM_000350.2:c.6148-9C= NP_000341.2:n.6148-9C=
NM_000350.3:c.6148-9C= MANE Select NP_000341.2:n.6148-9C=
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