Canonical Allele Identifier: CA2574438719

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056552C>G , CM000663.2:g.94056552C>G	GRCh38
NC_000001.10:g.94522108C>G , CM000663.1:g.94522108C>G	GRCh37
NC_000001.9:g.94294696C>G	NCBI36
NG_009073.1:g.69598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+49G>C MANE Select	ENSP00000359245.3:n.2382+49G>C
ENST00000649773.1:c.2161-1237G>C	ENSP00000496882.1:n.2161-1237G>C
ENST00000370225.3:c.2382+49G>C	ENSP00000359245.3:n.2382+49G>C
ENST00000536513.5:c.-65+6622G>C	ENSP00000439707.2:n.-65+6622G>C
NM_000350.2:c.2382+49G>C	NP_000341.2:n.2382+49G>C
NM_000350.3:c.2382+49G>C MANE Select	NP_000341.2:n.2382+49G>C