Canonical Allele Identifier: CA1181407984
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021048G= , CM000663.2:g.94021048G= GRCh38
NC_000001.10:g.94486604G= , CM000663.1:g.94486604G= GRCh37
NC_000001.9:g.94259192G= NCBI36
NG_009073.1:g.105102C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+192C= MANE Select ENSP00000359245.3:n.5018+192C=
ENST00000370225.3:c.5018+192C= ENSP00000359245.3:n.5018+192C=
ENST00000460514.1:n.512+192C=
ENST00000470771.1:n.128+192C=
ENST00000536513.5:c.1394+192C= ENSP00000439707.2:n.1394+192C=
NM_000350.2:c.5018+192C= NP_000341.2:n.5018+192C=
NM_000350.3:c.5018+192C= MANE Select NP_000341.2:n.5018+192C=
Search 100 bp 5'
Search 100 bp 3'