Canonical Allele Identifier: CA418825905

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94577086G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111530G>A , CM000663.2:g.94111530G>A	GRCh38
NC_000001.10:g.94577086G>A , CM000663.1:g.94577086G>A	GRCh37
NC_000001.9:g.94349674G>A	NCBI36
NG_009073.1:g.14620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.210C>T MANE Select	ENSP00000359245.3:p.Leu70=
ENST00000649773.1:c.210C>T	ENSP00000496882.1:p.Leu70=
ENST00000370225.3:c.210C>T	ENSP00000359245.3:p.Leu70=
NM_000350.2:c.210C>T	NP_000341.2:p.Leu70=
NM_000350.3:c.210C>T MANE Select	NP_000341.2:p.Leu70=