Canonical Allele Identifier: CA418812323

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94467513A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001957A>C , CM000663.2:g.94001957A>C	GRCh38
NC_000001.10:g.94467513A>C , CM000663.1:g.94467513A>C	GRCh37
NC_000001.9:g.94240101A>C	NCBI36
NG_009073.1:g.124193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6183T>G MANE Select	ENSP00000359245.3:p.Thr2061=
ENST00000370225.3:c.6183T>G	ENSP00000359245.3:p.Thr2061=
ENST00000465352.1:n.599T>G
ENST00000536513.5:c.2559T>G	ENSP00000439707.2:p.Thr853=
NM_000350.2:c.6183T>G	NP_000341.2:p.Thr2061=
NM_000350.3:c.6183T>G MANE Select	NP_000341.2:p.Thr2061=