Canonical Allele Identifier: CA2499306153
Community Standard Title: NM_000350.3(ABCA4):c.[1610G>A;5603A>T] (p.[Arg537His;Asn1868Ile])
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[94010911T>A;94063262C>T] , CM000663.2:g.[94010911T>A;94063262C>T] GRCh38
NC_000001.10:g.[94476467T>A;94528818C>T] , CM000663.1:g.[94476467T>A;94528818C>T] GRCh37
NC_000001.9:g.[94249055T>A;94301406C>T] NCBI36
NG_009073.1:g.[62888G>A;115239A>T]

Transcript Alleles

HGVS Amino-acid Change
NM_000350.3:c.[1610G>A;5603A>T] MANE Select NP_000341.2:p.[Arg537His;Asn1868Ile]
ENST00000370225.4:c.[1610G>A;5603A>T] MANE Select ENSP00000359245.3:p.[Arg537His;Asn1868Ile]
NM_000350.2:c.[1610G>A;5603A>T] NP_000341.2:p.[Arg537His;Asn1868Ile]
ENST00000370225.3:c.[1610G>A;5603A>T] ENSP00000359245.3:p.[Arg537His;Asn1868Ile]
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