Canonical Allele Identifier: CA1143538164
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047131G= , CM000663.2:g.94047131G= GRCh38
NC_000001.10:g.94512687G= , CM000663.1:g.94512687G= GRCh37
NC_000001.9:g.94285275G= NCBI36
NG_009073.1:g.79019C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-38C= MANE Select ENSP00000359245.3:n.2744-38C=
ENST00000649773.1:c.2522-38C= ENSP00000496882.1:n.2522-38C=
ENST00000370225.3:c.2744-38C= ENSP00000359245.3:n.2744-38C=
ENST00000536513.5:c.-64-7042C= ENSP00000439707.2:n.-64-7042C=
NM_000350.2:c.2744-38C= NP_000341.2:n.2744-38C=
NM_000350.3:c.2744-38C= MANE Select NP_000341.2:n.2744-38C=