Canonical Allele Identifier: CA418824997

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94496070T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030514T>A , CM000663.2:g.94030514T>A	GRCh38
NC_000001.10:g.94496070T>A , CM000663.1:g.94496070T>A	GRCh37
NC_000001.9:g.94268658T>A	NCBI36
NG_009073.1:g.95636A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4266A>T MANE Select	ENSP00000359245.3:p.Pro1422=
ENST00000370225.3:c.4266A>T	ENSP00000359245.3:p.Pro1422=
ENST00000536513.5:c.642A>T	ENSP00000439707.2:p.Pro214=
NM_000350.2:c.4266A>T	NP_000341.2:p.Pro1422=
NM_000350.3:c.4266A>T MANE Select	NP_000341.2:p.Pro1422=