Canonical Allele Identifier: CA436701123

Gene: SI

Linked Data

• gnomAD v4: 3-164996755-G-A
• MyVariant Identifiers: chr3:g.164714543G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164996755G>A , CM000665.2:g.164996755G>A	GRCh38
NC_000003.11:g.164714543G>A , CM000665.1:g.164714543G>A	GRCh37
NC_000003.10:g.166197237G>A	NCBI36
NG_017043.1:g.86741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.4558C>T MANE Select	ENSP00000264382.3:p.Leu1520=
ENST00000264382.7:c.4558C>T	ENSP00000264382.3:p.Leu1520=
NM_001041.3:c.4558C>T	NP_001032.2:p.Leu1520=
XM_011513078.1:c.4459C>T	XP_011511380.1:p.Leu1487=
XM_011513078.2:c.4459C>T	XP_011511380.1:p.Leu1487=
NM_001041.4:c.4558C>T MANE Select	NP_001032.2:p.Leu1520=