Canonical Allele Identifier: CA1181407213
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010640C= , CM000663.2:g.94010640C= GRCh38
NC_000001.10:g.94476196C= , CM000663.1:g.94476196C= GRCh37
NC_000001.9:g.94248784C= NCBI36
NG_009073.1:g.115510G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+160G= MANE Select ENSP00000359245.3:n.5714+160G=
ENST00000370225.3:c.5714+160G= ENSP00000359245.3:n.5714+160G=
ENST00000465352.1:n.130+160G=
ENST00000536513.5:c.2090+160G= ENSP00000439707.2:n.2090+160G=
NM_000350.2:c.5714+160G= NP_000341.2:n.5714+160G=
NM_000350.3:c.5714+160G= MANE Select NP_000341.2:n.5714+160G=
Search 100 bp 5'
Search 100 bp 3'