Canonical Allele Identifier: CA916079392
Community Standard Title: NM_000350.3(ABCA4):c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys])
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[94077713G>A;94080705G>A] , CM000663.2:g.[94077713G>A;94080705G>A] GRCh38
NC_000001.10:g.[94543269G>A;94546261G>A] , CM000663.1:g.[94543269G>A;94546261G>A] GRCh37
NC_000001.9:g.[94315857G>A;94318849G>A] NCBI36
NG_009073.1:g.[45445C>T;48437C>T]

Transcript Alleles

HGVS Amino-acid Change
NM_000350.3:c.[872C>T;1531C>T] MANE Select NP_000341.2:p.[Pro291Leu;Arg511Cys]
ENST00000370225.4:c.[872C>T;1531C>T] MANE Select ENSP00000359245.3:p.[Pro291Leu;Arg511Cys]
NM_000350.2:c.[872C>T;1531C>T] NP_000341.2:p.[Pro291Leu;Arg511Cys]
ENST00000370225.3:c.[872C>T;1531C>T] ENSP00000359245.3:p.[Pro291Leu;Arg511Cys]
ENST00000649773.1:c.[872C>T;1531C>T] ENSP00000496882.1:p.[Pro291Leu;Arg511Cys]
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