Canonical Allele Identifier: CA115005
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165046998A>C
GRCh37 chr3:g.164764786A>C
Revel Score:
ENST00000264382 (MANE Select) 0.840
gnomAD v2:
3:164764786 A / C
gnomAD v3:
3:165046998 A / C
gnomAD v4:
chr3-165046998-A-C
Joint Max Group AF 0.00280735 (NFE)
Genomes Max Group AF 0.00183522 (NFE)
Exomes Max Group AF 0.00285157 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1730T>G MANE Select ENSP00000264382.3:p.Val577Gly
ENST00000264382.7:c.1730T>G ENSP00000264382.3:p.Val577Gly
NM_001041.3:c.1730T>G NP_001032.2:p.Val577Gly
XM_011513078.1:c.1631T>G XP_011511380.1:p.Val544Gly
XM_011513078.2:c.1631T>G XP_011511380.1:p.Val544Gly
NM_001041.4:c.1730T>G MANE Select NP_001032.2:p.Val577Gly
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