Canonical Allele Identifier: CA341285617

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94577122G>T (hg19) ; chr1:g.94111566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111566G>T , CM000663.2:g.94111566G>T	GRCh38
NC_000001.10:g.94577122G>T , CM000663.1:g.94577122G>T	GRCh37
NC_000001.9:g.94349710G>T	NCBI36
NG_009073.1:g.14584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.174C>A MANE Select	ENSP00000359245.3:p.Asn58Lys
ENST00000649773.1:c.174C>A	ENSP00000496882.1:p.Asn58Lys
ENST00000370225.3:c.174C>A	ENSP00000359245.3:p.Asn58Lys
NM_000350.2:c.174C>A	NP_000341.2:p.Asn58Lys
NM_000350.3:c.174C>A MANE Select	NP_000341.2:p.Asn58Lys