Canonical Allele Identifier: CA1181420033
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041286T= , CM000663.2:g.94041286T= GRCh38
NC_000001.10:g.94506842T= , CM000663.1:g.94506842T= GRCh37
NC_000001.9:g.94279430T= NCBI36
NG_009073.1:g.84864A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3445A= MANE Select ENSP00000359245.3:p.Asn1149=
ENST00000370225.3:c.3445A= ENSP00000359245.3:p.Asn1149=
ENST00000536513.5:c.-64-1197A= ENSP00000439707.2:n.-64-1197A=
NM_000350.2:c.3445A= NP_000341.2:p.Asn1149=
NM_000350.3:c.3445A= MANE Select NP_000341.2:p.Asn1149=