Canonical Allele Identifier: CA1181426456
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056607C= , CM000663.2:g.94056607C= GRCh38
NC_000001.10:g.94522163C= , CM000663.1:g.94522163C= GRCh37
NC_000001.9:g.94294751C= NCBI36
NG_009073.1:g.69543G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2376G= MANE Select ENSP00000359245.3:p.Lys792=
ENST00000649773.1:c.2161-1292G= ENSP00000496882.1:n.2161-1292G=
ENST00000370225.3:c.2376G= ENSP00000359245.3:p.Lys792=
ENST00000536513.5:c.-65+6567G= ENSP00000439707.2:n.-65+6567G=
NM_000350.2:c.2376G= NP_000341.2:p.Lys792=
NM_000350.3:c.2376G= MANE Select NP_000341.2:p.Lys792=