Canonical Allele Identifier: CA1181428848
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062527A= , CM000663.2:g.94062527A= GRCh38
NC_000001.10:g.94528083A= , CM000663.1:g.94528083A= GRCh37
NC_000001.9:g.94300671A= NCBI36
NG_009073.1:g.63623T=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1937+50T= MANE Select ENSP00000359245.3:n.1937+50T=
ENST00000649773.1:c.1937+50T= ENSP00000496882.1:n.1937+50T=
ENST00000370225.3:c.1937+50T= ENSP00000359245.3:n.1937+50T=
ENST00000536513.5:c.-65+647T= ENSP00000439707.2:n.-65+647T=
NM_000350.2:c.1937+50T= NP_000341.2:n.1937+50T=
NM_000350.3:c.1937+50T= MANE Select NP_000341.2:n.1937+50T=