Canonical Allele Identifier: CA355052190
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046906-A-G
MyVariant Identifiers: chr3:g.164764694A>G (hg19) chr3:g.165046906A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046906A>G , CM000665.2:g.165046906A>G GRCh38
NC_000003.11:g.164764694A>G , CM000665.1:g.164764694A>G GRCh37
NC_000003.10:g.166247388A>G NCBI36
NG_017043.1:g.36590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1822T>C MANE Select ENSP00000264382.3:p.Ser608Pro
ENST00000264382.7:c.1822T>C ENSP00000264382.3:p.Ser608Pro
NM_001041.3:c.1822T>C NP_001032.2:p.Ser608Pro
XM_011513078.1:c.1723T>C XP_011511380.1:p.Ser575Pro
XM_011513078.2:c.1723T>C XP_011511380.1:p.Ser575Pro
NM_001041.4:c.1822T>C MANE Select NP_001032.2:p.Ser608Pro
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