Canonical Allele Identifier: CA227301

Gene: ABCA4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014666G>T , CM000663.2:g.94014666G>T	GRCh38
NC_000001.10:g.94480222G>T , CM000663.1:g.94480222G>T	GRCh37
NC_000001.9:g.94252810G>T	NCBI36
NG_009073.1:g.111484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5337C>A MANE Select	ENSP00000359245.3:p.Tyr1779Ter
ENST00000370225.3:c.5337C>A	ENSP00000359245.3:p.Tyr1779Ter
ENST00000536513.5:c.1713C>A	ENSP00000439707.2:p.Tyr571Ter
NM_000350.2:c.5337C>A	NP_000341.2:p.Tyr1779Ter
NM_000350.3:c.5337C>A MANE Select	NP_000341.2:p.Tyr1779Ter