Canonical Allele Identifier: CA515453963

Gene: SAT1

Linked Data

• dbSNP Id: rs764882680
• gnomAD v4: X-23783384-C-A
• MyVariant Identifiers: chrX:g.23801501C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783384C>A , CM000685.2:g.23783384C>A	GRCh38
NC_000023.10:g.23801501C>A , CM000685.1:g.23801501C>A	GRCh37
NC_000023.9:g.23711422C>A	NCBI36
NG_012929.1:g.5227C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379270.5:c.33C>A MANE Select	ENSP00000368572.4:p.Ala11=
ENST00000379251.7:c.33C>A	ENSP00000368553.3:p.Ala11=
ENST00000379253.7:c.33C>A	ENSP00000368555.3:p.Ala11=
ENST00000379254.5:c.33C>A	ENSP00000368556.1:p.Ala11=
ENST00000379270.4:c.33C>A	ENSP00000368572.4:p.Ala11=
ENST00000463236.5:n.48C>A
ENST00000489394.5:n.188C>A
NM_002970.3:c.33C>A	NP_002961.1:p.Ala11=
NR_027783.2:n.227C>A
XM_024452421.1:c.-1307C>A	XP_024308189.1:n.-1307C>A
NM_002970.4:c.33C>A MANE Select	NP_002961.1:p.Ala11=
NR_027783.3:n.212C>A