Canonical Allele Identifier: CA341279124

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94528135A>T (hg19) ; chr1:g.94062579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062579A>T , CM000663.2:g.94062579A>T	GRCh38
NC_000001.10:g.94528135A>T , CM000663.1:g.94528135A>T	GRCh37
NC_000001.9:g.94300723A>T	NCBI36
NG_009073.1:g.63571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1935T>A MANE Select	ENSP00000359245.3:p.Asp645Glu
ENST00000649773.1:c.1935T>A	ENSP00000496882.1:p.Asp645Glu
ENST00000370225.3:c.1935T>A	ENSP00000359245.3:p.Asp645Glu
ENST00000536513.5:c.-65+595T>A	ENSP00000439707.2:n.-65+595T>A
NM_000350.2:c.1935T>A	NP_000341.2:p.Asp645Glu
NM_000350.3:c.1935T>A MANE Select	NP_000341.2:p.Asp645Glu