Canonical Allele Identifier: CA341276743

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94463659C>A (hg19) ; chr1:g.93998103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998103C>A , CM000663.2:g.93998103C>A	GRCh38
NC_000001.10:g.94463659C>A , CM000663.1:g.94463659C>A	GRCh37
NC_000001.9:g.94236247C>A	NCBI36
NG_009073.1:g.128047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6487G>T MANE Select	ENSP00000359245.3:p.Asp2163Tyr
ENST00000370225.3:c.6487G>T	ENSP00000359245.3:p.Asp2163Tyr
ENST00000536513.5:c.2863G>T	ENSP00000439707.2:p.Asp955Tyr
NM_000350.2:c.6487G>T	NP_000341.2:p.Asp2163Tyr
NM_000350.3:c.6487G>T MANE Select	NP_000341.2:p.Asp2163Tyr