Canonical Allele Identifier: CA341285615

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94577121T>C (hg19) ; chr1:g.94111565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111565T>C , CM000663.2:g.94111565T>C	GRCh38
NC_000001.10:g.94577121T>C , CM000663.1:g.94577121T>C	GRCh37
NC_000001.9:g.94349709T>C	NCBI36
NG_009073.1:g.14585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.175A>G MANE Select	ENSP00000359245.3:p.Lys59Glu
ENST00000649773.1:c.175A>G	ENSP00000496882.1:p.Lys59Glu
ENST00000370225.3:c.175A>G	ENSP00000359245.3:p.Lys59Glu
NM_000350.2:c.175A>G	NP_000341.2:p.Lys59Glu
NM_000350.3:c.175A>G MANE Select	NP_000341.2:p.Lys59Glu