Canonical Allele Identifier: CA2419788605

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783378C= , CM000685.2:g.23783378C=	GRCh38
NC_000023.10:g.23801495C= , CM000685.1:g.23801495C=	GRCh37
NC_000023.9:g.23711416C=	NCBI36
NG_012929.1:g.5221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.27C= MANE Select	ENSP00000368572.4:p.Ala9=
ENST00000379251.7:c.27C=	ENSP00000368553.3:p.Ala9=
ENST00000379253.7:c.27C=	ENSP00000368555.3:p.Ala9=
ENST00000379254.5:c.27C=	ENSP00000368556.1:p.Ala9=
ENST00000379270.4:c.27C=	ENSP00000368572.4:p.Ala9=
ENST00000463236.5:n.42C=
ENST00000489394.5:n.182C=
NM_002970.3:c.27C=	NP_002961.1:p.Ala9=
NR_027783.2:n.221C=
XM_024452421.1:c.-1313C=	XP_024308189.1:n.-1313C=
NM_002970.4:c.27C= MANE Select	NP_002961.1:p.Ala9=
NR_027783.3:n.206C=