Canonical Allele Identifier: CA115006
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165021265C>T
GRCh37 chr3:g.164739053C>T
Revel Score:
ENST00000264382 (MANE Select) 0.521
gnomAD v2:
3:164739053 C / T
gnomAD v3:
3:165021265 C / T
gnomAD v4:
chr3-165021265-C-T
Joint Max Group AF 0.00332687 (NFE)
Genomes Max Group AF 0.00242413 (NFE)
Exomes Max Group AF 0.00336413 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165021265C>T , CM000665.2:g.165021265C>T GRCh38
NC_000003.11:g.164739053C>T , CM000665.1:g.164739053C>T GRCh37
NC_000003.10:g.166221747C>T NCBI36
NG_017043.1:g.62231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.3218G>A MANE Select ENSP00000264382.3:p.Gly1073Asp
ENST00000264382.7:c.3218G>A ENSP00000264382.3:p.Gly1073Asp
NM_001041.3:c.3218G>A NP_001032.2:p.Gly1073Asp
XM_011513078.1:c.3119G>A XP_011511380.1:p.Gly1040Asp
XM_011513078.2:c.3119G>A XP_011511380.1:p.Gly1040Asp
NM_001041.4:c.3218G>A MANE Select NP_001032.2:p.Gly1073Asp
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