Canonical Allele Identifier: CA341285194
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029579-T-A
MyVariant Identifiers: chr1:g.94495135T>A (hg19) chr1:g.94029579T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029579T>A , CM000663.2:g.94029579T>A GRCh38
NC_000001.10:g.94495135T>A , CM000663.1:g.94495135T>A GRCh37
NC_000001.9:g.94267723T>A NCBI36
NG_009073.1:g.96571A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4405A>T MANE Select ENSP00000359245.3:p.Asn1469Tyr
ENST00000370225.3:c.4405A>T ENSP00000359245.3:p.Asn1469Tyr
ENST00000536513.5:c.781A>T ENSP00000439707.2:p.Asn261Tyr
NM_000350.2:c.4405A>T NP_000341.2:p.Asn1469Tyr
NM_000350.3:c.4405A>T MANE Select NP_000341.2:p.Asn1469Tyr
Search 100 bp 5'
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