Canonical Allele Identifier: CA412531291

Gene: SAT1

Linked Data

• dbSNP Id: rs145980431
• gnomAD v4: X-23783385-G-T
• COSMIC: COSM6305225 ; COSM6305226
• MyVariant Identifiers: chrX:g.23801502G>T (hg19) ; chrX:g.23783385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23783385G>T , CM000685.2:g.23783385G>T	GRCh38
NC_000023.10:g.23801502G>T , CM000685.1:g.23801502G>T	GRCh37
NC_000023.9:g.23711423G>T	NCBI36
NG_012929.1:g.5228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379270.5:c.34G>T MANE Select	ENSP00000368572.4:p.Ala12Ser
ENST00000379251.7:c.34G>T	ENSP00000368553.3:p.Ala12Ser
ENST00000379253.7:c.34G>T	ENSP00000368555.3:p.Ala12Ser
ENST00000379254.5:c.34G>T	ENSP00000368556.1:p.Ala12Ser
ENST00000379270.4:c.34G>T	ENSP00000368572.4:p.Ala12Ser
ENST00000463236.5:n.49G>T
ENST00000489394.5:n.189G>T
NM_002970.3:c.34G>T	NP_002961.1:p.Ala12Ser
NR_027783.2:n.228G>T
XM_024452421.1:c.-1306G>T	XP_024308189.1:n.-1306G>T
NM_002970.4:c.34G>T MANE Select	NP_002961.1:p.Ala12Ser
NR_027783.3:n.213G>T