Canonical Allele Identifier: CA1181422601
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046971T= , CM000663.2:g.94046971T= GRCh38
NC_000001.10:g.94512527T= , CM000663.1:g.94512527T= GRCh37
NC_000001.9:g.94285115T= NCBI36
NG_009073.1:g.79179A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2866A= MANE Select ENSP00000359245.3:p.Asn956=
ENST00000649773.1:c.2644A= ENSP00000496882.1:p.Asn882=
ENST00000370225.3:c.2866A= ENSP00000359245.3:p.Asn956=
ENST00000536513.5:c.-64-6882A= ENSP00000439707.2:n.-64-6882A=
NM_000350.2:c.2866A= NP_000341.2:p.Asn956=
NM_000350.3:c.2866A= MANE Select NP_000341.2:p.Asn956=