Canonical Allele Identifier: CA418812485

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94512645G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047089G>T , CM000663.2:g.94047089G>T	GRCh38
NC_000001.10:g.94512645G>T , CM000663.1:g.94512645G>T	GRCh37
NC_000001.9:g.94285233G>T	NCBI36
NG_009073.1:g.79061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2748C>A MANE Select	ENSP00000359245.3:p.Ser916=
ENST00000649773.1:c.2526C>A	ENSP00000496882.1:p.Ser842=
ENST00000370225.3:c.2748C>A	ENSP00000359245.3:p.Ser916=
ENST00000536513.5:c.-64-7000C>A	ENSP00000439707.2:n.-64-7000C>A
NM_000350.2:c.2748C>A	NP_000341.2:p.Ser916=
NM_000350.3:c.2748C>A MANE Select	NP_000341.2:p.Ser916=