Canonical Allele Identifier: CA1181427973
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060442G= , CM000663.2:g.94060442G= GRCh38
NC_000001.10:g.94525998G= , CM000663.1:g.94525998G= GRCh37
NC_000001.9:g.94298586G= NCBI36
NG_009073.1:g.65708C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+95C= MANE Select ENSP00000359245.3:n.2160+95C=
ENST00000649773.1:c.2160+95C= ENSP00000496882.1:n.2160+95C=
ENST00000370225.3:c.2160+95C= ENSP00000359245.3:n.2160+95C=
ENST00000472033.1:n.280+95C=
ENST00000536513.5:c.-65+2732C= ENSP00000439707.2:n.-65+2732C=
NM_000350.2:c.2160+95C= NP_000341.2:n.2160+95C=
NM_000350.3:c.2160+95C= MANE Select NP_000341.2:n.2160+95C=
Search 100 bp 5'
Search 100 bp 3'