Canonical Allele Identifier: CA355035364
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164786893C>G (hg19) chr3:g.165069105C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069105C>G , CM000665.2:g.165069105C>G GRCh38
NC_000003.11:g.164786893C>G , CM000665.1:g.164786893C>G GRCh37
NC_000003.10:g.166269587C>G NCBI36
NG_017043.1:g.14391G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.346G>C MANE Select ENSP00000264382.3:p.Val116Leu
ENST00000264382.7:c.346G>C ENSP00000264382.3:p.Val116Leu
ENST00000476593.1:c.*221G>C ENSP00000419450.1:n.*221G>C
NM_001041.3:c.346G>C NP_001032.2:p.Val116Leu
XM_011513078.1:c.247G>C XP_011511380.1:p.Val83Leu
XM_011513078.2:c.247G>C XP_011511380.1:p.Val83Leu
NM_001041.4:c.346G>C MANE Select NP_001032.2:p.Val116Leu
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