Canonical Allele Identifier: CA355030051

Gene: SI

Linked Data

• gnomAD v4: 3-164996764-C-A
• MyVariant Identifiers: chr3:g.164714552C>A (hg19) ; chr3:g.164996764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996764C>A , CM000665.2:g.164996764C>A	GRCh38
NC_000003.11:g.164714552C>A , CM000665.1:g.164714552C>A	GRCh37
NC_000003.10:g.166197246C>A	NCBI36
NG_017043.1:g.86732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4549G>T MANE Select	ENSP00000264382.3:p.Glu1517Ter
ENST00000264382.7:c.4549G>T	ENSP00000264382.3:p.Glu1517Ter
NM_001041.3:c.4549G>T	NP_001032.2:p.Glu1517Ter
XM_011513078.1:c.4450G>T	XP_011511380.1:p.Glu1484Ter
XM_011513078.2:c.4450G>T	XP_011511380.1:p.Glu1484Ter
NM_001041.4:c.4549G>T MANE Select	NP_001032.2:p.Glu1517Ter