Canonical Allele Identifier: CA2740044962

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783332A>T , CM000685.2:g.23783332A>T	GRCh38
NC_000023.10:g.23801449A>T , CM000685.1:g.23801449A>T	GRCh37
NC_000023.9:g.23711370A>T	NCBI36
NG_012929.1:g.5175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-20A>T MANE Select	ENSP00000368572.4:n.-20A>T
ENST00000683890.1:c.55A>T	ENSP00000506989.1:p.Lys19Ter
ENST00000379251.7:c.-20A>T	ENSP00000368553.3:n.-20A>T
ENST00000379253.7:c.-20A>T	ENSP00000368555.3:n.-20A>T
ENST00000379254.5:c.-20A>T	ENSP00000368556.1:n.-20A>T
ENST00000379270.4:c.-20A>T	ENSP00000368572.4:n.-20A>T
ENST00000489394.5:n.136A>T
NM_002970.3:c.-20A>T	NP_002961.1:n.-20A>T
NR_027783.2:n.175A>T
XM_024452421.1:c.-1359A>T	XP_024308189.1:n.-1359A>T
NM_002970.4:c.-20A>T MANE Select	NP_002961.1:n.-20A>T
NR_027783.3:n.160A>T