Canonical Allele Identifier: CA355035205
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069080-A-C
MyVariant Identifiers: chr3:g.164786868A>C (hg19) chr3:g.165069080A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069080A>C , CM000665.2:g.165069080A>C GRCh38
NC_000003.11:g.164786868A>C , CM000665.1:g.164786868A>C GRCh37
NC_000003.10:g.166269562A>C NCBI36
NG_017043.1:g.14416T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.371T>G MANE Select ENSP00000264382.3:p.Ile124Ser
ENST00000264382.7:c.371T>G ENSP00000264382.3:p.Ile124Ser
ENST00000476593.1:c.*246T>G ENSP00000419450.1:n.*246T>G
NM_001041.3:c.371T>G NP_001032.2:p.Ile124Ser
XM_011513078.1:c.272T>G XP_011511380.1:p.Ile91Ser
XM_011513078.2:c.272T>G XP_011511380.1:p.Ile91Ser
NM_001041.4:c.371T>G MANE Select NP_001032.2:p.Ile124Ser
Search 100 bp 5'
Search 100 bp 3'