Canonical Allele Identifier: CA1181408578
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021679A= , CM000663.2:g.94021679A= GRCh38
NC_000001.10:g.94487235A= , CM000663.1:g.94487235A= GRCh37
NC_000001.9:g.94259823A= NCBI36
NG_009073.1:g.104471T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4809T= MANE Select ENSP00000359245.3:p.Pro1603=
ENST00000370225.3:c.4809T= ENSP00000359245.3:p.Pro1603=
ENST00000460514.1:n.303T=
ENST00000536513.5:c.1185T= ENSP00000439707.2:p.Pro395=
NM_000350.2:c.4809T= NP_000341.2:p.Pro1603=
NM_000350.3:c.4809T= MANE Select NP_000341.2:p.Pro1603=