Canonical Allele Identifier: CA326921866

Gene: SAT1

Linked Data

• dbSNP Id: rs980707369
• gnomAD v2: X-23801495-C-T
• gnomAD v3: X-23783378-C-T
• gnomAD v4: X-23783378-C-T
• MyVariant Identifiers: chrX:g.23801495C>T (hg19) ; chrX:g.23783378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783378C>T , CM000685.2:g.23783378C>T	GRCh38
NC_000023.10:g.23801495C>T , CM000685.1:g.23801495C>T	GRCh37
NC_000023.9:g.23711416C>T	NCBI36
NG_012929.1:g.5221C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379270.5:c.27C>T MANE Select	ENSP00000368572.4:p.Ala9=
ENST00000379251.7:c.27C>T	ENSP00000368553.3:p.Ala9=
ENST00000379253.7:c.27C>T	ENSP00000368555.3:p.Ala9=
ENST00000379254.5:c.27C>T	ENSP00000368556.1:p.Ala9=
ENST00000379270.4:c.27C>T	ENSP00000368572.4:p.Ala9=
ENST00000463236.5:n.42C>T
ENST00000489394.5:n.182C>T
NM_002970.3:c.27C>T	NP_002961.1:p.Ala9=
NR_027783.2:n.221C>T
XM_024452421.1:c.-1313C>T	XP_024308189.1:n.-1313C>T
NM_002970.4:c.27C>T MANE Select	NP_002961.1:p.Ala9=
NR_027783.3:n.206C>T