Canonical Allele Identifier: CA418822042

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94528177T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062621T>A , CM000663.2:g.94062621T>A	GRCh38
NC_000001.10:g.94528177T>A , CM000663.1:g.94528177T>A	GRCh37
NC_000001.9:g.94300765T>A	NCBI36
NG_009073.1:g.63529A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1893A>T MANE Select	ENSP00000359245.3:p.Gly631=
ENST00000649773.1:c.1893A>T	ENSP00000496882.1:p.Gly631=
ENST00000370225.3:c.1893A>T	ENSP00000359245.3:p.Gly631=
ENST00000536513.5:c.-65+553A>T	ENSP00000439707.2:n.-65+553A>T
NM_000350.2:c.1893A>T	NP_000341.2:p.Gly631=
NM_000350.3:c.1893A>T MANE Select	NP_000341.2:p.Gly631=