Canonical Allele Identifier: CA1142702714
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030949G= , CM000663.2:g.94030949G= GRCh38
NC_000001.10:g.94496505G= , CM000663.1:g.94496505G= GRCh37
NC_000001.9:g.94269093G= NCBI36
NG_009073.1:g.95201C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+47C= MANE Select ENSP00000359245.3:n.4253+47C=
ENST00000370225.3:c.4253+47C= ENSP00000359245.3:n.4253+47C=
ENST00000536513.5:c.629+47C= ENSP00000439707.2:n.629+47C=
NM_000350.2:c.4253+47C= NP_000341.2:n.4253+47C=
NM_000350.3:c.4253+47C= MANE Select NP_000341.2:n.4253+47C=