Canonical Allele Identifier: CA2668418795
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-164996806-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996806A>T , CM000665.2:g.164996806A>T GRCh38
NC_000003.11:g.164714594A>T , CM000665.1:g.164714594A>T GRCh37
NC_000003.10:g.166197288A>T NCBI36
NG_017043.1:g.86690T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-34T>A MANE Select ENSP00000264382.3:n.4541-34T>A
ENST00000264382.7:c.4541-34T>A ENSP00000264382.3:n.4541-34T>A
NM_001041.3:c.4541-34T>A NP_001032.2:n.4541-34T>A
XM_011513078.1:c.4442-34T>A XP_011511380.1:n.4442-34T>A
XM_011513078.2:c.4442-34T>A XP_011511380.1:n.4442-34T>A
NM_001041.4:c.4541-34T>A MANE Select NP_001032.2:n.4541-34T>A
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