Canonical Allele Identifier: CA2419788597

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783357T= , CM000685.2:g.23783357T=	GRCh38
NC_000023.10:g.23801474T= , CM000685.1:g.23801474T=	GRCh37
NC_000023.9:g.23711395T=	NCBI36
NG_012929.1:g.5200T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.6T= MANE Select	ENSP00000368572.4:p.Ala2=
ENST00000683890.1:c.80T=	ENSP00000506989.1:p.Leu27=
ENST00000379251.7:c.6T=	ENSP00000368553.3:p.Ala2=
ENST00000379253.7:c.6T=	ENSP00000368555.3:p.Ala2=
ENST00000379254.5:c.6T=	ENSP00000368556.1:p.Ala2=
ENST00000379270.4:c.6T=	ENSP00000368572.4:p.Ala2=
ENST00000463236.5:n.21T=
ENST00000489394.5:n.161T=
NM_002970.3:c.6T=	NP_002961.1:p.Ala2=
NR_027783.2:n.200T=
XM_024452421.1:c.-1334T=	XP_024308189.1:n.-1334T=
NM_002970.4:c.6T= MANE Select	NP_002961.1:p.Ala2=
NR_027783.3:n.185T=