Canonical Allele Identifier: CA515411273

Gene: SAT1

Linked Data

• MyVariant Identifiers: chrX:g.23801489C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783372C>T , CM000685.2:g.23783372C>T	GRCh38
NC_000023.10:g.23801489C>T , CM000685.1:g.23801489C>T	GRCh37
NC_000023.9:g.23711410C>T	NCBI36
NG_012929.1:g.5215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379270.5:c.21C>T MANE Select	ENSP00000368572.4:p.Arg7=
ENST00000379251.7:c.21C>T	ENSP00000368553.3:p.Arg7=
ENST00000379253.7:c.21C>T	ENSP00000368555.3:p.Arg7=
ENST00000379254.5:c.21C>T	ENSP00000368556.1:p.Arg7=
ENST00000379270.4:c.21C>T	ENSP00000368572.4:p.Arg7=
ENST00000463236.5:n.36C>T
ENST00000489394.5:n.176C>T
NM_002970.3:c.21C>T	NP_002961.1:p.Arg7=
NR_027783.2:n.215C>T
XM_024452421.1:c.-1319C>T	XP_024308189.1:n.-1319C>T
NM_002970.4:c.21C>T MANE Select	NP_002961.1:p.Arg7=
NR_027783.3:n.200C>T