Canonical Allele Identifier: CA412531224

Gene: SAT1

Linked Data

• MyVariant Identifiers: chrX:g.23801470T>G (hg19) ; chrX:g.23783353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783353T>G , CM000685.2:g.23783353T>G	GRCh38
NC_000023.10:g.23801470T>G , CM000685.1:g.23801470T>G	GRCh37
NC_000023.9:g.23711391T>G	NCBI36
NG_012929.1:g.5196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.2T>G MANE Select	ENSP00000368572.4:p.Met1Arg
ENST00000683890.1:c.76T>G	ENSP00000506989.1:p.Trp26Gly
ENST00000379251.7:c.2T>G	ENSP00000368553.3:p.Met1Arg
ENST00000379253.7:c.2T>G	ENSP00000368555.3:p.Met1Arg
ENST00000379254.5:c.2T>G	ENSP00000368556.1:p.Met1Arg
ENST00000379270.4:c.2T>G	ENSP00000368572.4:p.Met1Arg
ENST00000463236.5:n.17T>G
ENST00000489394.5:n.157T>G
NM_002970.3:c.2T>G	NP_002961.1:p.Met1Arg
NR_027783.2:n.196T>G
XM_024452421.1:c.-1338T>G	XP_024308189.1:n.-1338T>G
NM_002970.4:c.2T>G MANE Select	NP_002961.1:p.Met1Arg
NR_027783.3:n.181T>G