Canonical Allele Identifier: CA341277634
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1064793015
gnomAD v2: 1-94466660-T-C
MyVariant Identifiers: chr1:g.94466660T>C (hg19) chr1:g.94001104T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001104T>C , CM000663.2:g.94001104T>C GRCh38
NC_000001.10:g.94466660T>C , CM000663.1:g.94466660T>C GRCh37
NC_000001.9:g.94239248T>C NCBI36
NG_009073.1:g.125046A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6284A>G MANE Select ENSP00000359245.3:p.Asp2095Gly
ENST00000370225.3:c.6284A>G ENSP00000359245.3:p.Asp2095Gly
ENST00000536513.5:c.2660A>G ENSP00000439707.2:p.Asp887Gly
NM_000350.2:c.6284A>G NP_000341.2:p.Asp2095Gly
NM_000350.3:c.6284A>G MANE Select NP_000341.2:p.Asp2095Gly
Search 100 bp 5'
Search 100 bp 3'