Canonical Allele Identifier: CA913203331
Community Standard Title: NM_000350.3(ABCA4):c.[5512C>G;5882G>A] (p.[His1838Asp;Gly1961Glu])
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[94008251C>T;94011334G>C] , CM000663.2:g.[94008251C>T;94011334G>C] GRCh38
NC_000001.10:g.[94473807C>T;94476890G>C] , CM000663.1:g.[94473807C>T;94476890G>C] GRCh37
NC_000001.9:g.[94246395C>T;94249478G>C] NCBI36
NG_009073.1:g.[114816C>G;117899G>A]

Transcript Alleles

HGVS Amino-acid Change
NM_000350.3:c.[5512C>G;5882G>A] MANE Select NP_000341.2:p.[His1838Asp;Gly1961Glu]
ENST00000370225.4:c.[5512C>G;5882G>A] MANE Select ENSP00000359245.3:p.[His1838Asp;Gly1961Glu]
NM_000350.2:c.[5512C>G;5882G>A] NP_000341.2:p.[His1838Asp;Gly1961Glu]
ENST00000370225.3:c.[5512C>G;5882G>A] ENSP00000359245.3:p.[His1838Asp;Gly1961Glu]
ENST00000536513.5:c.[1888C>G;2258G>A] ENSP00000439707.2:p.[His630Asp;Gly753Glu]
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