Canonical Allele Identifier: CA341285373
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028162
ClinVar RCV Id: RCV003889532
MyVariant Identifiers: chr1:g.94577012G>A (hg19) chr1:g.94111456G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111456G>A , CM000663.2:g.94111456G>A GRCh38
NC_000001.10:g.94577012G>A , CM000663.1:g.94577012G>A GRCh37
NC_000001.9:g.94349600G>A NCBI36
NG_009073.1:g.14694C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.284C>T MANE Select ENSP00000359245.3:p.Ser95Leu
ENST00000649773.1:c.284C>T ENSP00000496882.1:p.Ser95Leu
ENST00000370225.3:c.284C>T ENSP00000359245.3:p.Ser95Leu
NM_000350.2:c.284C>T NP_000341.2:p.Ser95Leu
NM_000350.3:c.284C>T MANE Select NP_000341.2:p.Ser95Leu
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