Canonical Allele Identifier: CA341281547

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94481295C>T (hg19) ; chr1:g.94015739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94015739C>T , CM000663.2:g.94015739C>T	GRCh38
NC_000001.10:g.94481295C>T , CM000663.1:g.94481295C>T	GRCh37
NC_000001.9:g.94253883C>T	NCBI36
NG_009073.1:g.110411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5312G>A MANE Select	ENSP00000359245.3:p.Gly1771Glu
ENST00000370225.3:c.5312G>A	ENSP00000359245.3:p.Gly1771Glu
ENST00000536513.5:c.1688G>A	ENSP00000439707.2:p.Gly563Glu
NM_000350.2:c.5312G>A	NP_000341.2:p.Gly1771Glu
NM_000350.3:c.5312G>A MANE Select	NP_000341.2:p.Gly1771Glu