Canonical Allele Identifier: CA387511072

Gene: SACS

Linked Data

• COSMIC: COSM5936029 ; COSM5936030
• MyVariant Identifiers: chr13:g.23907069G>A (hg19) ; chr13:g.23332930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332930G>A , CM000675.2:g.23332930G>A	GRCh38
NC_000013.10:g.23907069G>A , CM000675.1:g.23907069G>A	GRCh37
NC_000013.9:g.22805069G>A	NCBI36
NG_012342.1:g.105773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20815C>T	ENSP00000508399.1:n.2186-20815C>T
ENST00000682944.1:c.10973C>T	ENSP00000507173.1:p.Ser3658Phe
ENST00000683210.1:c.2185+20855C>T	ENSP00000506739.1:n.2185+20855C>T
ENST00000683270.1:c.6446-3446C>T	ENSP00000507624.1:n.6446-3446C>T
ENST00000683367.1:c.2177-3446C>T	ENSP00000507780.1:n.2177-3446C>T
ENST00000683489.1:c.2292-2978C>T	ENSP00000508403.1:n.2292-2978C>T
ENST00000683680.1:c.2319-2978C>T	ENSP00000507223.1:n.2319-2978C>T
ENST00000684163.1:c.2204-3446C>T	ENSP00000508262.1:n.2204-3446C>T
ENST00000684196.1:n.4543-3446C>T
ENST00000684325.1:c.2186-11256C>T	ENSP00000508121.1:n.2186-11256C>T
ENST00000684385.1:c.2221-3446C>T	ENSP00000507855.1:n.2221-3446C>T
ENST00000684497.1:c.2186-10286C>T	ENSP00000507057.1:n.2186-10286C>T
ENST00000382292.9:c.10946C>T MANE Select	ENSP00000371729.3:p.Ser3649Phe
ENST00000423156.2:c.2186-3446C>T	ENSP00000390925.2:n.2186-3446C>T
ENST00000455470.6:c.2432-3446C>T	ENSP00000406565.2:n.2432-3446C>T
ENST00000382292.7:c.10946C>T	ENSP00000371729.3:p.Ser3649Phe
ENST00000382298.7:c.10946C>T	ENSP00000371735.3:p.Ser3649Phe
ENST00000402364.1:c.8696C>T	ENSP00000385844.1:p.Ser2899Phe
ENST00000423156.1:c.1058-3446C>T	ENSP00000390925.1:n.1058-3446C>T
ENST00000455470.5:c.2130-3446C>T
NM_001278055.1:c.10505C>T	NP_001264984.1:p.Ser3502Phe
NM_014363.5:c.10946C>T	NP_055178.3:p.Ser3649Phe
XM_005266338.1:c.10973C>T	XP_005266395.1:p.Ser3658Phe
XM_011535038.1:c.10997C>T	XP_011533340.1:p.Ser3666Phe
XM_011535039.1:c.10964C>T	XP_011533341.1:p.Ser3655Phe
XM_005266338.2:c.10973C>T	XP_005266395.1:p.Ser3658Phe
XM_011535039.2:c.10964C>T	XP_011533341.1:p.Ser3655Phe
XM_017020539.1:c.10937C>T	XP_016876028.1:p.Ser3646Phe
XM_024449337.1:c.10973C>T	XP_024305105.1:p.Ser3658Phe
NM_014363.6:c.10946C>T MANE Select	NP_055178.3:p.Ser3649Phe
NM_001278055.2:c.10505C>T	NP_001264984.1:p.Ser3502Phe