Canonical Allele Identifier: CA412531247

Gene: SAT1

Linked Data

• MyVariant Identifiers: chrX:g.23801479T>A (hg19) ; chrX:g.23783362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783362T>A , CM000685.2:g.23783362T>A	GRCh38
NC_000023.10:g.23801479T>A , CM000685.1:g.23801479T>A	GRCh37
NC_000023.9:g.23711400T>A	NCBI36
NG_012929.1:g.5205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.11T>A MANE Select	ENSP00000368572.4:p.Phe4Tyr
ENST00000683890.1:c.85T>A	ENSP00000506989.1:p.Ser29Thr
ENST00000379251.7:c.11T>A	ENSP00000368553.3:p.Phe4Tyr
ENST00000379253.7:c.11T>A	ENSP00000368555.3:p.Phe4Tyr
ENST00000379254.5:c.11T>A	ENSP00000368556.1:p.Phe4Tyr
ENST00000379270.4:c.11T>A	ENSP00000368572.4:p.Phe4Tyr
ENST00000463236.5:n.26T>A
ENST00000489394.5:n.166T>A
NM_002970.3:c.11T>A	NP_002961.1:p.Phe4Tyr
NR_027783.2:n.205T>A
XM_024452421.1:c.-1329T>A	XP_024308189.1:n.-1329T>A
NM_002970.4:c.11T>A MANE Select	NP_002961.1:p.Phe4Tyr
NR_027783.3:n.190T>A