Canonical Allele Identifier: CA1181430075
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067594A= , CM000663.2:g.94067594A= GRCh38
NC_000001.10:g.94533150A= , CM000663.1:g.94533150A= GRCh37
NC_000001.9:g.94305738A= NCBI36
NG_009073.1:g.58556T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4277T= MANE Select ENSP00000359245.3:n.1555-4277T=
ENST00000649773.1:c.1555-4277T= ENSP00000496882.1:n.1555-4277T=
ENST00000370225.3:c.1555-4277T= ENSP00000359245.3:n.1555-4277T=
NM_000350.2:c.1555-4277T= NP_000341.2:n.1555-4277T=
NM_000350.3:c.1555-4277T= MANE Select NP_000341.2:n.1555-4277T=