Canonical Allele Identifier: CA1181426426
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056554T= , CM000663.2:g.94056554T= GRCh38
NC_000001.10:g.94522110T= , CM000663.1:g.94522110T= GRCh37
NC_000001.9:g.94294698T= NCBI36
NG_009073.1:g.69596A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+47A= MANE Select ENSP00000359245.3:n.2382+47A=
ENST00000649773.1:c.2161-1239A= ENSP00000496882.1:n.2161-1239A=
ENST00000370225.3:c.2382+47A= ENSP00000359245.3:n.2382+47A=
ENST00000536513.5:c.-65+6620A= ENSP00000439707.2:n.-65+6620A=
NM_000350.2:c.2382+47A= NP_000341.2:n.2382+47A=
NM_000350.3:c.2382+47A= MANE Select NP_000341.2:n.2382+47A=