Canonical Allele Identifier: CA2668418780
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-164996789-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996789A>G , CM000665.2:g.164996789A>G GRCh38
NC_000003.11:g.164714577A>G , CM000665.1:g.164714577A>G GRCh37
NC_000003.10:g.166197271A>G NCBI36
NG_017043.1:g.86707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-17T>C MANE Select ENSP00000264382.3:n.4541-17T>C
ENST00000264382.7:c.4541-17T>C ENSP00000264382.3:n.4541-17T>C
NM_001041.3:c.4541-17T>C NP_001032.2:n.4541-17T>C
XM_011513078.1:c.4442-17T>C XP_011511380.1:n.4442-17T>C
XM_011513078.2:c.4442-17T>C XP_011511380.1:n.4442-17T>C
NM_001041.4:c.4541-17T>C MANE Select NP_001032.2:n.4541-17T>C
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