Canonical Allele Identifier: CA1149044952

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997958G= , CM000663.2:g.93997958G=	GRCh38
NC_000001.10:g.94463514G= , CM000663.1:g.94463514G=	GRCh37
NC_000001.9:g.94236102G=	NCBI36
NG_009073.1:g.128192C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6632C= MANE Select	ENSP00000359245.3:p.Ser2211=
ENST00000370225.3:c.6632C=	ENSP00000359245.3:p.Ser2211=
ENST00000536513.5:c.3008C=	ENSP00000439707.2:p.Ser1003=
NM_000350.2:c.6632C=	NP_000341.2:p.Ser2211=
NM_000350.3:c.6632C= MANE Select	NP_000341.2:p.Ser2211=