Canonical Allele Identifier: CA355052434
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165046998A>G
GRCh37 chr3:g.164764786A>G
Revel Score:
ENST00000264382 (MANE Select) 0.705
gnomAD v2:
3:164764786 A / G
gnomAD v4:
chr3-165046998-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046998A>G , CM000665.2:g.165046998A>G GRCh38
NC_000003.11:g.164764786A>G , CM000665.1:g.164764786A>G GRCh37
NC_000003.10:g.166247480A>G NCBI36
NG_017043.1:g.36498T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1730T>C MANE Select ENSP00000264382.3:p.Val577Ala
ENST00000264382.7:c.1730T>C ENSP00000264382.3:p.Val577Ala
NM_001041.3:c.1730T>C NP_001032.2:p.Val577Ala
XM_011513078.1:c.1631T>C XP_011511380.1:p.Val544Ala
XM_011513078.2:c.1631T>C XP_011511380.1:p.Val544Ala
NM_001041.4:c.1730T>C MANE Select NP_001032.2:p.Val577Ala
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