Canonical Allele Identifier: CA355052189
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164764694A>C (hg19) chr3:g.165046906A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046906A>C , CM000665.2:g.165046906A>C GRCh38
NC_000003.11:g.164764694A>C , CM000665.1:g.164764694A>C GRCh37
NC_000003.10:g.166247388A>C NCBI36
NG_017043.1:g.36590T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1822T>G MANE Select ENSP00000264382.3:p.Ser608Ala
ENST00000264382.7:c.1822T>G ENSP00000264382.3:p.Ser608Ala
NM_001041.3:c.1822T>G NP_001032.2:p.Ser608Ala
XM_011513078.1:c.1723T>G XP_011511380.1:p.Ser575Ala
XM_011513078.2:c.1723T>G XP_011511380.1:p.Ser575Ala
NM_001041.4:c.1822T>G MANE Select NP_001032.2:p.Ser608Ala
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