Canonical Allele Identifier: CA2744619350

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062901T>A , CM000663.2:g.94062901T>A	GRCh38
NC_000001.10:g.94528457T>A , CM000663.1:g.94528457T>A	GRCh37
NC_000001.9:g.94301045T>A	NCBI36
NG_009073.1:g.63249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-148A>T MANE Select	ENSP00000359245.3:n.1761-148A>T
ENST00000649773.1:c.1761-148A>T	ENSP00000496882.1:n.1761-148A>T
ENST00000370225.3:c.1761-148A>T	ENSP00000359245.3:n.1761-148A>T
ENST00000536513.5:c.-65+273A>T	ENSP00000439707.2:n.-65+273A>T
NM_000350.2:c.1761-148A>T	NP_000341.2:n.1761-148A>T
NM_000350.3:c.1761-148A>T MANE Select	NP_000341.2:n.1761-148A>T