Canonical Allele Identifier: CA1181418799

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062579A= , CM000663.2:g.94062579A=	GRCh38
NC_000001.10:g.94528135A= , CM000663.1:g.94528135A=	GRCh37
NC_000001.9:g.94300723A=	NCBI36
NG_009073.1:g.63571T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1935T= MANE Select	ENSP00000359245.3:p.Asp645=
ENST00000649773.1:c.1935T=	ENSP00000496882.1:p.Asp645=
ENST00000370225.3:c.1935T=	ENSP00000359245.3:p.Asp645=
ENST00000536513.5:c.-65+595T=	ENSP00000439707.2:n.-65+595T=
NM_000350.2:c.1935T=	NP_000341.2:p.Asp645=
NM_000350.3:c.1935T= MANE Select	NP_000341.2:p.Asp645=