Canonical Allele Identifier: CA2668421718

Gene: SI

Linked Data

• gnomAD v4: 3-165046806-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046806G>A , CM000665.2:g.165046806G>A	GRCh38
NC_000003.11:g.164764594G>A , CM000665.1:g.164764594G>A	GRCh37
NC_000003.10:g.166247288G>A	NCBI36
NG_017043.1:g.36690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1887+35C>T MANE Select	ENSP00000264382.3:n.1887+35C>T
ENST00000264382.7:c.1887+35C>T	ENSP00000264382.3:n.1887+35C>T
NM_001041.3:c.1887+35C>T	NP_001032.2:n.1887+35C>T
XM_011513078.1:c.1788+35C>T	XP_011511380.1:n.1788+35C>T
XM_011513078.2:c.1788+35C>T	XP_011511380.1:n.1788+35C>T
NM_001041.4:c.1887+35C>T MANE Select	NP_001032.2:n.1887+35C>T