Canonical Allele Identifier: CA2574438675

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079242A>C , CM000663.2:g.94079242A>C	GRCh38
NC_000001.10:g.94544798A>C , CM000663.1:g.94544798A>C	GRCh37
NC_000001.9:g.94317386A>C	NCBI36
NG_009073.1:g.46908T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1239+80T>G MANE Select	ENSP00000359245.3:n.1239+80T>G
ENST00000649773.1:c.1239+80T>G	ENSP00000496882.1:n.1239+80T>G
ENST00000370225.3:c.1239+80T>G	ENSP00000359245.3:n.1239+80T>G
NM_000350.2:c.1239+80T>G	NP_000341.2:n.1239+80T>G
NM_000350.3:c.1239+80T>G MANE Select	NP_000341.2:n.1239+80T>G