Canonical Allele Identifier: CA1417400282

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046869A= , CM000665.2:g.165046869A=	GRCh38
NC_000003.11:g.164764657A= , CM000665.1:g.164764657A=	GRCh37
NC_000003.10:g.166247351A=	NCBI36
NG_017043.1:g.36627T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264382.8:c.1859T= MANE Select	ENSP00000264382.3:p.Leu620=
ENST00000264382.7:c.1859T=	ENSP00000264382.3:p.Leu620=
NM_001041.3:c.1859T=	NP_001032.2:p.Leu620=
XM_011513078.1:c.1760T=	XP_011511380.1:p.Leu587=
XM_011513078.2:c.1760T=	XP_011511380.1:p.Leu587=
NM_001041.4:c.1859T= MANE Select	NP_001032.2:p.Leu620=