Canonical Allele Identifier: CA412531293

Gene: SAT1

Linked Data

• MyVariant Identifiers: chrX:g.23801503C>T (hg19) ; chrX:g.23783386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783386C>T , CM000685.2:g.23783386C>T	GRCh38
NC_000023.10:g.23801503C>T , CM000685.1:g.23801503C>T	GRCh37
NC_000023.9:g.23711424C>T	NCBI36
NG_012929.1:g.5229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379270.5:c.35C>T MANE Select	ENSP00000368572.4:p.Ala12Val
ENST00000379251.7:c.35C>T	ENSP00000368553.3:p.Ala12Val
ENST00000379253.7:c.35C>T	ENSP00000368555.3:p.Ala12Val
ENST00000379254.5:c.35C>T	ENSP00000368556.1:p.Ala12Val
ENST00000379270.4:c.35C>T	ENSP00000368572.4:p.Ala12Val
ENST00000463236.5:n.50C>T
ENST00000489394.5:n.190C>T
NM_002970.3:c.35C>T	NP_002961.1:p.Ala12Val
NR_027783.2:n.229C>T
XM_024452421.1:c.-1305C>T	XP_024308189.1:n.-1305C>T
NM_002970.4:c.35C>T MANE Select	NP_002961.1:p.Ala12Val
NR_027783.3:n.214C>T