Canonical Allele Identifier: CA341291180

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94506916T>A (hg19) ; chr1:g.94041360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041360T>A , CM000663.2:g.94041360T>A	GRCh38
NC_000001.10:g.94506916T>A , CM000663.1:g.94506916T>A	GRCh37
NC_000001.9:g.94279504T>A	NCBI36
NG_009073.1:g.84790A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3371A>T MANE Select	ENSP00000359245.3:p.Asp1124Val
ENST00000370225.3:c.3371A>T	ENSP00000359245.3:p.Asp1124Val
ENST00000536513.5:c.-64-1271A>T	ENSP00000439707.2:n.-64-1271A>T
NM_000350.2:c.3371A>T	NP_000341.2:p.Asp1124Val
NM_000350.3:c.3371A>T MANE Select	NP_000341.2:p.Asp1124Val