Canonical Allele Identifier: CA10615191

Gene: SI

Linked Data

• ClinVar Variation Id: 343998
• ClinVar RCV Id: RCV000320697
• dbSNP Id: rs73018867
• gnomAD v2: 3-164697082-A-G
• gnomAD v3: 3-164979294-A-G
• gnomAD v4: 3-164979294-A-G
• MyVariant Identifiers: chr3:g.164697082A>G (hg19) ; chr3:g.164979294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164979294A>G , CM000665.2:g.164979294A>G	GRCh38
NC_000003.11:g.164697082A>G , CM000665.1:g.164697082A>G	GRCh37
NC_000003.10:g.166179776A>G	NCBI36
NG_017043.1:g.104202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.*68T>C MANE Select	ENSP00000264382.3:n.*68T>C
ENST00000264382.7:c.*68T>C	ENSP00000264382.3:n.*68T>C
NM_001041.3:c.*68T>C	NP_001032.2:n.*68T>C
XM_011513078.1:c.*68T>C	XP_011511380.1:n.*68T>C
XM_011513078.2:c.*68T>C	XP_011511380.1:n.*68T>C
NM_001041.4:c.*68T>C MANE Select	NP_001032.2:n.*68T>C