Canonical Allele Identifier: CA355030047

Gene: SI

Linked Data

• gnomAD v4: 3-164996763-T-C
• MyVariant Identifiers: chr3:g.164714551T>C (hg19) ; chr3:g.164996763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996763T>C , CM000665.2:g.164996763T>C	GRCh38
NC_000003.11:g.164714551T>C , CM000665.1:g.164714551T>C	GRCh37
NC_000003.10:g.166197245T>C	NCBI36
NG_017043.1:g.86733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4550A>G MANE Select	ENSP00000264382.3:p.Glu1517Gly
ENST00000264382.7:c.4550A>G	ENSP00000264382.3:p.Glu1517Gly
NM_001041.3:c.4550A>G	NP_001032.2:p.Glu1517Gly
XM_011513078.1:c.4451A>G	XP_011511380.1:p.Glu1484Gly
XM_011513078.2:c.4451A>G	XP_011511380.1:p.Glu1484Gly
NM_001041.4:c.4550A>G MANE Select	NP_001032.2:p.Glu1517Gly