Canonical Allele Identifier: CA418826656
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94508893T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043337T>G , CM000663.2:g.94043337T>G GRCh38
NC_000001.10:g.94508893T>G , CM000663.1:g.94508893T>G GRCh37
NC_000001.9:g.94281481T>G NCBI36
NG_009073.1:g.82813A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3189A>C MANE Select ENSP00000359245.3:p.Ser1063=
ENST00000370225.3:c.3189A>C ENSP00000359245.3:p.Ser1063=
ENST00000536513.5:c.-64-3248A>C ENSP00000439707.2:n.-64-3248A>C
NM_000350.2:c.3189A>C NP_000341.2:p.Ser1063=
NM_000350.3:c.3189A>C MANE Select NP_000341.2:p.Ser1063=
Search 100 bp 5'
Search 100 bp 3'