Canonical Allele Identifier: CA2691524

Gene: SI

Linked Data

• dbSNP Id: rs751392975
• ExAC: 3:164786819 C / T
• gnomAD v2: 3-164786819-C-T
• gnomAD v3: 3-165069031-C-T
• gnomAD v4: 3-165069031-C-T
• MyVariant Identifiers: chr3:g.164786819C>T (hg19) ; chr3:g.165069031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069031C>T , CM000665.2:g.165069031C>T	GRCh38
NC_000003.11:g.164786819C>T , CM000665.1:g.164786819C>T	GRCh37
NC_000003.10:g.166269513C>T	NCBI36
NG_017043.1:g.14465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.373+47G>A MANE Select	ENSP00000264382.3:n.373+47G>A
ENST00000264382.7:c.373+47G>A	ENSP00000264382.3:n.373+47G>A
ENST00000476593.1:c.*248+47G>A	ENSP00000419450.1:n.*248+47G>A
NM_001041.3:c.373+47G>A	NP_001032.2:n.373+47G>A
XM_011513078.1:c.274+47G>A	XP_011511380.1:n.274+47G>A
XM_011513078.2:c.274+47G>A	XP_011511380.1:n.274+47G>A
NM_001041.4:c.373+47G>A MANE Select	NP_001032.2:n.373+47G>A