Canonical Allele Identifier: CA2577961210

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046834G>C , CM000665.2:g.165046834G>C	GRCh38
NC_000003.11:g.164764622G>C , CM000665.1:g.164764622G>C	GRCh37
NC_000003.10:g.166247316G>C	NCBI36
NG_017043.1:g.36662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1887+7C>G MANE Select	ENSP00000264382.3:n.1887+7C>G
ENST00000264382.7:c.1887+7C>G	ENSP00000264382.3:n.1887+7C>G
NM_001041.3:c.1887+7C>G	NP_001032.2:n.1887+7C>G
XM_011513078.1:c.1788+7C>G	XP_011511380.1:n.1788+7C>G
XM_011513078.2:c.1788+7C>G	XP_011511380.1:n.1788+7C>G
NM_001041.4:c.1887+7C>G MANE Select	NP_001032.2:n.1887+7C>G