Canonical Allele Identifier: CA1181406375

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997818G= , CM000663.2:g.93997818G=	GRCh38
NC_000001.10:g.94463374G= , CM000663.1:g.94463374G=	GRCh37
NC_000001.9:g.94235962G=	NCBI36
NG_009073.1:g.128332C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+43C= MANE Select	ENSP00000359245.3:n.6729+43C=
ENST00000370225.3:c.6729+43C=	ENSP00000359245.3:n.6729+43C=
ENST00000536513.5:c.3105+43C=	ENSP00000439707.2:n.3105+43C=
NM_000350.2:c.6729+43C=	NP_000341.2:n.6729+43C=
NM_000350.3:c.6729+43C= MANE Select	NP_000341.2:n.6729+43C=