Canonical Allele Identifier: CA2004865687
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1860937100
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121458154T>A , CM000673.2:g.121458154T>A GRCh38
NC_000011.9:g.121328863T>A , CM000673.1:g.121328863T>A GRCh37
NC_000011.8:g.120834073T>A NCBI36
NG_023313.1:g.10903T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.285+5538T>A MANE Select ENSP00000260197.6:n.285+5538T>A
ENST00000260197.11:c.285+5538T>A ENSP00000260197.6:n.285+5538T>A
ENST00000532451.1:n.237+5538T>A
NM_003105.5:c.285+5538T>A NP_003096.1:n.285+5538T>A
XM_011542963.1:c.285+5538T>A XP_011541265.1:n.285+5538T>A
XM_011542964.1:c.285+5538T>A XP_011541266.1:n.285+5538T>A
XM_011542963.3:c.285+5538T>A XP_011541265.1:n.285+5538T>A
XM_017018169.2:c.-28+5326T>A XP_016873658.1:n.-28+5326T>A
XM_017018171.1:c.285+5538T>A XP_016873660.1:n.285+5538T>A
NM_003105.6:c.285+5538T>A MANE Select NP_003096.2:n.285+5538T>A
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