Canonical Allele Identifier: CA1181406372

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997813T= , CM000663.2:g.93997813T=	GRCh38
NC_000001.10:g.94463369T= , CM000663.1:g.94463369T=	GRCh37
NC_000001.9:g.94235957T=	NCBI36
NG_009073.1:g.128337A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+48A= MANE Select	ENSP00000359245.3:n.6729+48A=
ENST00000370225.3:c.6729+48A=	ENSP00000359245.3:n.6729+48A=
ENST00000536513.5:c.3105+48A=	ENSP00000439707.2:n.3105+48A=
NM_000350.2:c.6729+48A=	NP_000341.2:n.6729+48A=
NM_000350.3:c.6729+48A= MANE Select	NP_000341.2:n.6729+48A=