Canonical Allele Identifier: CA2740044909

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783292C>G , CM000685.2:g.23783292C>G	GRCh38
NC_000023.10:g.23801409C>G , CM000685.1:g.23801409C>G	GRCh37
NC_000023.9:g.23711330C>G	NCBI36
NG_012929.1:g.5135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-60C>G MANE Select	ENSP00000368572.4:n.-60C>G
ENST00000683890.1:c.15C>G	ENSP00000506989.1:p.Leu5=
ENST00000379251.7:c.-60C>G	ENSP00000368553.3:n.-60C>G
ENST00000379253.7:c.-60C>G	ENSP00000368555.3:n.-60C>G
ENST00000379254.5:c.-60C>G	ENSP00000368556.1:n.-60C>G
ENST00000379270.4:c.-60C>G	ENSP00000368572.4:n.-60C>G
ENST00000489394.5:n.96C>G
NM_002970.3:c.-60C>G	NP_002961.1:n.-60C>G
NR_027783.2:n.135C>G
XM_024452421.1:c.-1399C>G	XP_024308189.1:n.-1399C>G
NM_002970.4:c.-60C>G MANE Select	NP_002961.1:n.-60C>G
NR_027783.3:n.120C>G