Canonical Allele Identifier: CA418811546
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs61754033
MyVariant Identifiers: chr1:g.94512516G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046960G>T , CM000663.2:g.94046960G>T GRCh38
NC_000001.10:g.94512516G>T , CM000663.1:g.94512516G>T GRCh37
NC_000001.9:g.94285104G>T NCBI36
NG_009073.1:g.79190C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2877C>A MANE Select ENSP00000359245.3:p.Thr959=
ENST00000649773.1:c.2655C>A ENSP00000496882.1:p.Thr885=
ENST00000370225.3:c.2877C>A ENSP00000359245.3:p.Thr959=
ENST00000536513.5:c.-64-6871C>A ENSP00000439707.2:n.-64-6871C>A
NM_000350.2:c.2877C>A NP_000341.2:p.Thr959=
NM_000350.3:c.2877C>A MANE Select NP_000341.2:p.Thr959=
Search 100 bp 5'
Search 100 bp 3'