Canonical Allele Identifier: CA1143624058
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046962T= , CM000663.2:g.94046962T= GRCh38
NC_000001.10:g.94512518T= , CM000663.1:g.94512518T= GRCh37
NC_000001.9:g.94285106T= NCBI36
NG_009073.1:g.79188A=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2875A= MANE Select ENSP00000359245.3:p.Thr959=
ENST00000649773.1:c.2653A= ENSP00000496882.1:p.Thr885=
ENST00000370225.3:c.2875A= ENSP00000359245.3:p.Thr959=
ENST00000536513.5:c.-64-6873A= ENSP00000439707.2:n.-64-6873A=
NM_000350.2:c.2875A= NP_000341.2:p.Thr959=
NM_000350.3:c.2875A= MANE Select NP_000341.2:p.Thr959=