Canonical Allele Identifier: CA1145618268
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062899A= , CM000663.2:g.94062899A= GRCh38
NC_000001.10:g.94528455A= , CM000663.1:g.94528455A= GRCh37
NC_000001.9:g.94301043A= NCBI36
NG_009073.1:g.63251T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-146T= MANE Select ENSP00000359245.3:n.1761-146T=
ENST00000649773.1:c.1761-146T= ENSP00000496882.1:n.1761-146T=
ENST00000370225.3:c.1761-146T= ENSP00000359245.3:n.1761-146T=
ENST00000536513.5:c.-65+275T= ENSP00000439707.2:n.-65+275T=
NM_000350.2:c.1761-146T= NP_000341.2:n.1761-146T=
NM_000350.3:c.1761-146T= MANE Select NP_000341.2:n.1761-146T=