Canonical Allele Identifier: CA1181398784
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002100C= , CM000663.2:g.94002100C= GRCh38
NC_000001.10:g.94467656C= , CM000663.1:g.94467656C= GRCh37
NC_000001.9:g.94240244C= NCBI36
NG_009073.1:g.124050G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-108G= MANE Select ENSP00000359245.3:n.6148-108G=
ENST00000370225.3:c.6148-108G= ENSP00000359245.3:n.6148-108G=
ENST00000465352.1:n.564-108G=
ENST00000536513.5:c.2524-108G= ENSP00000439707.2:n.2524-108G=
NM_000350.2:c.6148-108G= NP_000341.2:n.6148-108G=
NM_000350.3:c.6148-108G= MANE Select NP_000341.2:n.6148-108G=