Canonical Allele Identifier: CA355035371
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069106-G-T
MyVariant Identifiers: chr3:g.164786894G>T (hg19) chr3:g.165069106G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069106G>T , CM000665.2:g.165069106G>T GRCh38
NC_000003.11:g.164786894G>T , CM000665.1:g.164786894G>T GRCh37
NC_000003.10:g.166269588G>T NCBI36
NG_017043.1:g.14390C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.345C>A MANE Select ENSP00000264382.3:p.Asn115Lys
ENST00000264382.7:c.345C>A ENSP00000264382.3:p.Asn115Lys
ENST00000476593.1:c.*220C>A ENSP00000419450.1:n.*220C>A
NM_001041.3:c.345C>A NP_001032.2:p.Asn115Lys
XM_011513078.1:c.246C>A XP_011511380.1:p.Asn82Lys
XM_011513078.2:c.246C>A XP_011511380.1:p.Asn82Lys
NM_001041.4:c.345C>A MANE Select NP_001032.2:p.Asn115Lys
Search 100 bp 5'
Search 100 bp 3'