Canonical Allele Identifier: CA956828
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs752790640
ExAC: 1:94463473 G / A
gnomAD v2: 1-94463473-G-A
gnomAD v4: 1-93997917-G-A
MyVariant Identifiers: chr1:g.94463473G>A (hg19) chr1:g.93997917G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997917G>A , CM000663.2:g.93997917G>A GRCh38
NC_000001.10:g.94463473G>A , CM000663.1:g.94463473G>A GRCh37
NC_000001.9:g.94236061G>A NCBI36
NG_009073.1:g.128233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6673C>T MANE Select ENSP00000359245.3:p.His2225Tyr
ENST00000370225.3:c.6673C>T ENSP00000359245.3:p.His2225Tyr
ENST00000536513.5:c.3049C>T ENSP00000439707.2:p.His1017Tyr
NM_000350.2:c.6673C>T NP_000341.2:p.His2225Tyr
NM_000350.3:c.6673C>T MANE Select NP_000341.2:p.His2225Tyr
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