Canonical Allele Identifier: CA2740044987

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783343A>G , CM000685.2:g.23783343A>G	GRCh38
NC_000023.10:g.23801460A>G , CM000685.1:g.23801460A>G	GRCh37
NC_000023.9:g.23711381A>G	NCBI36
NG_012929.1:g.5186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-9A>G MANE Select	ENSP00000368572.4:n.-9A>G
ENST00000683890.1:c.66A>G	ENSP00000506989.1:p.Lys22=
ENST00000379251.7:c.-9A>G	ENSP00000368553.3:n.-9A>G
ENST00000379253.7:c.-9A>G	ENSP00000368555.3:n.-9A>G
ENST00000379254.5:c.-9A>G	ENSP00000368556.1:n.-9A>G
ENST00000379270.4:c.-9A>G	ENSP00000368572.4:n.-9A>G
ENST00000463236.5:n.7A>G
ENST00000489394.5:n.147A>G
NM_002970.3:c.-9A>G	NP_002961.1:n.-9A>G
NR_027783.2:n.186A>G
XM_024452421.1:c.-1348A>G	XP_024308189.1:n.-1348A>G
NM_002970.4:c.-9A>G MANE Select	NP_002961.1:n.-9A>G
NR_027783.3:n.171A>G