Canonical Allele Identifier: CA355052188
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164764693G>T (hg19) chr3:g.165046905G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046905G>T , CM000665.2:g.165046905G>T GRCh38
NC_000003.11:g.164764693G>T , CM000665.1:g.164764693G>T GRCh37
NC_000003.10:g.166247387G>T NCBI36
NG_017043.1:g.36591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1823C>A MANE Select ENSP00000264382.3:p.Ser608Ter
ENST00000264382.7:c.1823C>A ENSP00000264382.3:p.Ser608Ter
NM_001041.3:c.1823C>A NP_001032.2:p.Ser608Ter
XM_011513078.1:c.1724C>A XP_011511380.1:p.Ser575Ter
XM_011513078.2:c.1724C>A XP_011511380.1:p.Ser575Ter
NM_001041.4:c.1823C>A MANE Select NP_001032.2:p.Ser608Ter
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