Canonical Allele Identifier: CA2579573348

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783314G>T , CM000685.2:g.23783314G>T	GRCh38
NC_000023.10:g.23801431G>T , CM000685.1:g.23801431G>T	GRCh37
NC_000023.9:g.23711352G>T	NCBI36
NG_012929.1:g.5157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-38G>T MANE Select	ENSP00000368572.4:n.-38G>T
ENST00000683890.1:c.37G>T	ENSP00000506989.1:p.Gly13Cys
ENST00000379251.7:c.-38G>T	ENSP00000368553.3:n.-38G>T
ENST00000379253.7:c.-38G>T	ENSP00000368555.3:n.-38G>T
ENST00000379254.5:c.-38G>T	ENSP00000368556.1:n.-38G>T
ENST00000379270.4:c.-38G>T	ENSP00000368572.4:n.-38G>T
ENST00000489394.5:n.118G>T
NM_002970.3:c.-38G>T	NP_002961.1:n.-38G>T
NR_027783.2:n.157G>T
XM_024452421.1:c.-1377G>T	XP_024308189.1:n.-1377G>T
NM_002970.4:c.-38G>T MANE Select	NP_002961.1:n.-38G>T
NR_027783.3:n.142G>T