Canonical Allele Identifier: CA2740044923

Gene: SAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783302T>A , CM000685.2:g.23783302T>A	GRCh38
NC_000023.10:g.23801419T>A , CM000685.1:g.23801419T>A	GRCh37
NC_000023.9:g.23711340T>A	NCBI36
NG_012929.1:g.5145T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.-50T>A MANE Select	ENSP00000368572.4:n.-50T>A
ENST00000683890.1:c.25T>A	ENSP00000506989.1:p.Phe9Ile
ENST00000379251.7:c.-50T>A	ENSP00000368553.3:n.-50T>A
ENST00000379253.7:c.-50T>A	ENSP00000368555.3:n.-50T>A
ENST00000379254.5:c.-50T>A	ENSP00000368556.1:n.-50T>A
ENST00000379270.4:c.-50T>A	ENSP00000368572.4:n.-50T>A
ENST00000489394.5:n.106T>A
NM_002970.3:c.-50T>A	NP_002961.1:n.-50T>A
NR_027783.2:n.145T>A
XM_024452421.1:c.-1389T>A	XP_024308189.1:n.-1389T>A
NM_002970.4:c.-50T>A MANE Select	NP_002961.1:n.-50T>A
NR_027783.3:n.130T>A