Canonical Allele Identifier: CA1181426418
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056537A= , CM000663.2:g.94056537A= GRCh38
NC_000001.10:g.94522093A= , CM000663.1:g.94522093A= GRCh37
NC_000001.9:g.94294681A= NCBI36
NG_009073.1:g.69613T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+64T= MANE Select ENSP00000359245.3:n.2382+64T=
ENST00000649773.1:c.2161-1222T= ENSP00000496882.1:n.2161-1222T=
ENST00000370225.3:c.2382+64T= ENSP00000359245.3:n.2382+64T=
ENST00000536513.5:c.-65+6637T= ENSP00000439707.2:n.-65+6637T=
NM_000350.2:c.2382+64T= NP_000341.2:n.2382+64T=
NM_000350.3:c.2382+64T= MANE Select NP_000341.2:n.2382+64T=