Canonical Allele Identifier: CA418826405
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94544902A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079346A>T , CM000663.2:g.94079346A>T GRCh38
NC_000001.10:g.94544902A>T , CM000663.1:g.94544902A>T GRCh37
NC_000001.9:g.94317490A>T NCBI36
NG_009073.1:g.46804T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1215T>A MANE Select ENSP00000359245.3:p.Pro405=
ENST00000649773.1:c.1215T>A ENSP00000496882.1:p.Pro405=
ENST00000370225.3:c.1215T>A ENSP00000359245.3:p.Pro405=
NM_000350.2:c.1215T>A NP_000341.2:p.Pro405=
NM_000350.3:c.1215T>A MANE Select NP_000341.2:p.Pro405=