Canonical Allele Identifier: CA1417382061

Gene: SI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165069102G= , CM000665.2:g.165069102G=	GRCh38
NC_000003.11:g.164786890G= , CM000665.1:g.164786890G=	GRCh37
NC_000003.10:g.166269584G=	NCBI36
NG_017043.1:g.14394C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.349C= MANE Select	ENSP00000264382.3:p.Gln117=
ENST00000264382.7:c.349C=	ENSP00000264382.3:p.Gln117=
ENST00000476593.1:c.*224C=	ENSP00000419450.1:n.*224C=
NM_001041.3:c.349C=	NP_001032.2:p.Gln117=
XM_011513078.1:c.250C=	XP_011511380.1:p.Gln84=
XM_011513078.2:c.250C=	XP_011511380.1:p.Gln84=
NM_001041.4:c.349C= MANE Select	NP_001032.2:p.Gln117=