Canonical Allele Identifier: CA341291331

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94506943A>T (hg19) ; chr1:g.94041387A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041387A>T , CM000663.2:g.94041387A>T	GRCh38
NC_000001.10:g.94506943A>T , CM000663.1:g.94506943A>T	GRCh37
NC_000001.9:g.94279531A>T	NCBI36
NG_009073.1:g.84763T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3344T>A MANE Select	ENSP00000359245.3:p.Met1115Lys
ENST00000370225.3:c.3344T>A	ENSP00000359245.3:p.Met1115Lys
ENST00000536513.5:c.-64-1298T>A	ENSP00000439707.2:n.-64-1298T>A
NM_000350.2:c.3344T>A	NP_000341.2:p.Met1115Lys
NM_000350.3:c.3344T>A MANE Select	NP_000341.2:p.Met1115Lys