Canonical Allele Identifier: CA341278504
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94526137A>G (hg19) chr1:g.94060581A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060581A>G , CM000663.2:g.94060581A>G GRCh38
NC_000001.10:g.94526137A>G , CM000663.1:g.94526137A>G GRCh37
NC_000001.9:g.94298725A>G NCBI36
NG_009073.1:g.65569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2116T>C MANE Select ENSP00000359245.3:p.Ser706Pro
ENST00000649773.1:c.2116T>C ENSP00000496882.1:p.Ser706Pro
ENST00000370225.3:c.2116T>C ENSP00000359245.3:p.Ser706Pro
ENST00000472033.1:n.236T>C
ENST00000536513.5:c.-65+2593T>C ENSP00000439707.2:n.-65+2593T>C
NM_000350.2:c.2116T>C NP_000341.2:p.Ser706Pro
NM_000350.3:c.2116T>C MANE Select NP_000341.2:p.Ser706Pro
Search 100 bp 5'
Search 100 bp 3'