Canonical Allele Identifier: CA2668418800

Gene: SI

Linked Data

• gnomAD v4: 3-164996813-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996813C>A , CM000665.2:g.164996813C>A	GRCh38
NC_000003.11:g.164714601C>A , CM000665.1:g.164714601C>A	GRCh37
NC_000003.10:g.166197295C>A	NCBI36
NG_017043.1:g.86683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4541-41G>T MANE Select	ENSP00000264382.3:n.4541-41G>T
ENST00000264382.7:c.4541-41G>T	ENSP00000264382.3:n.4541-41G>T
NM_001041.3:c.4541-41G>T	NP_001032.2:n.4541-41G>T
XM_011513078.1:c.4442-41G>T	XP_011511380.1:n.4442-41G>T
XM_011513078.2:c.4442-41G>T	XP_011511380.1:n.4442-41G>T
NM_001041.4:c.4541-41G>T MANE Select	NP_001032.2:n.4541-41G>T