Canonical Allele Identifier: CA1181426495

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056712C= , CM000663.2:g.94056712C=	GRCh38
NC_000001.10:g.94522268C= , CM000663.1:g.94522268C=	GRCh37
NC_000001.9:g.94294856C=	NCBI36
NG_009073.1:g.69438G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2271G= MANE Select	ENSP00000359245.3:p.Lys757=
ENST00000649773.1:c.2161-1397G=	ENSP00000496882.1:n.2161-1397G=
ENST00000370225.3:c.2271G=	ENSP00000359245.3:p.Lys757=
ENST00000536513.5:c.-65+6462G=	ENSP00000439707.2:n.-65+6462G=
NM_000350.2:c.2271G=	NP_000341.2:p.Lys757=
NM_000350.3:c.2271G= MANE Select	NP_000341.2:p.Lys757=