Canonical Allele Identifier: CA1181395415

Gene: ABCA4

Linked Data

• dbSNP Id: rs1659063509

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998131A>G , CM000663.2:g.93998131A>G	GRCh38
NC_000001.10:g.94463687A>G , CM000663.1:g.94463687A>G	GRCh37
NC_000001.9:g.94236275A>G	NCBI36
NG_009073.1:g.128019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-21T>C MANE Select	ENSP00000359245.3:n.6480-21T>C
ENST00000370225.3:c.6480-21T>C	ENSP00000359245.3:n.6480-21T>C
ENST00000536513.5:c.2856-21T>C	ENSP00000439707.2:n.2856-21T>C
NM_000350.2:c.6480-21T>C	NP_000341.2:n.6480-21T>C
NM_000350.3:c.6480-21T>C MANE Select	NP_000341.2:n.6480-21T>C