Canonical Allele Identifier: CA958416
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs771051333
ExAC: 1:94528240 A / T
gnomAD v2: 1-94528240-A-T
MyVariant Identifiers: chr1:g.94528240A>T (hg19) chr1:g.94062684A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062684A>T , CM000663.2:g.94062684A>T GRCh38
NC_000001.10:g.94528240A>T , CM000663.1:g.94528240A>T GRCh37
NC_000001.9:g.94300828A>T NCBI36
NG_009073.1:g.63466T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1830T>A MANE Select ENSP00000359245.3:p.Tyr610Ter
ENST00000649773.1:c.1830T>A ENSP00000496882.1:p.Tyr610Ter
ENST00000370225.3:c.1830T>A ENSP00000359245.3:p.Tyr610Ter
ENST00000536513.5:c.-65+490T>A ENSP00000439707.2:n.-65+490T>A
NM_000350.2:c.1830T>A NP_000341.2:p.Tyr610Ter
NM_000350.3:c.1830T>A MANE Select NP_000341.2:p.Tyr610Ter
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