Canonical Allele Identifier: CA418825247
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94497391C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031835C>A , CM000663.2:g.94031835C>A GRCh38
NC_000001.10:g.94497391C>A , CM000663.1:g.94497391C>A GRCh37
NC_000001.9:g.94269979C>A NCBI36
NG_009073.1:g.94315G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4071G>T MANE Select ENSP00000359245.3:p.Ala1357=
ENST00000370225.3:c.4071G>T ENSP00000359245.3:p.Ala1357=
ENST00000536513.5:c.447G>T ENSP00000439707.2:p.Ala149=
NM_000350.2:c.4071G>T NP_000341.2:p.Ala1357=
NM_000350.3:c.4071G>T MANE Select NP_000341.2:p.Ala1357=