Canonical Allele Identifier: CA341283146
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486920T>A (hg19) chr1:g.94021364T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021364T>A , CM000663.2:g.94021364T>A GRCh38
NC_000001.10:g.94486920T>A , CM000663.1:g.94486920T>A GRCh37
NC_000001.9:g.94259508T>A NCBI36
NG_009073.1:g.104786A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4894A>T MANE Select ENSP00000359245.3:p.Asn1632Tyr
ENST00000370225.3:c.4894A>T ENSP00000359245.3:p.Asn1632Tyr
ENST00000460514.1:n.388A>T
ENST00000470771.1:n.4A>T
ENST00000536513.5:c.1270A>T ENSP00000439707.2:p.Asn424Tyr
NM_000350.2:c.4894A>T NP_000341.2:p.Asn1632Tyr
NM_000350.3:c.4894A>T MANE Select NP_000341.2:p.Asn1632Tyr
Search 100 bp 5'
Search 100 bp 3'