Canonical Allele Identifier: CA1181422689
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047155C= , CM000663.2:g.94047155C= GRCh38
NC_000001.10:g.94512711C= , CM000663.1:g.94512711C= GRCh37
NC_000001.9:g.94285299C= NCBI36
NG_009073.1:g.78995G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-62G= MANE Select ENSP00000359245.3:n.2744-62G=
ENST00000649773.1:c.2522-62G= ENSP00000496882.1:n.2522-62G=
ENST00000370225.3:c.2744-62G= ENSP00000359245.3:n.2744-62G=
ENST00000536513.5:c.-64-7066G= ENSP00000439707.2:n.-64-7066G=
NM_000350.2:c.2744-62G= NP_000341.2:n.2744-62G=
NM_000350.3:c.2744-62G= MANE Select NP_000341.2:n.2744-62G=