Canonical Allele Identifier: CA341281583
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94015758-C-T
MyVariant Identifiers: chr1:g.94481314C>T (hg19) chr1:g.94015758C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015758C>T , CM000663.2:g.94015758C>T GRCh38
NC_000001.10:g.94481314C>T , CM000663.1:g.94481314C>T GRCh37
NC_000001.9:g.94253902C>T NCBI36
NG_009073.1:g.110392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5293G>A MANE Select ENSP00000359245.3:p.Ala1765Thr
ENST00000370225.3:c.5293G>A ENSP00000359245.3:p.Ala1765Thr
ENST00000536513.5:c.1669G>A ENSP00000439707.2:p.Ala557Thr
NM_000350.2:c.5293G>A NP_000341.2:p.Ala1765Thr
NM_000350.3:c.5293G>A MANE Select NP_000341.2:p.Ala1765Thr
Search 100 bp 5'
Search 100 bp 3'