Canonical Allele Identifier: CA483159623

Gene: SACS

Linked Data

• COSMIC: COSM295502
• MyVariant Identifiers: chr13:g.23908265A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334126A>G , CM000675.2:g.23334126A>G	GRCh38
NC_000013.10:g.23908265A>G , CM000675.1:g.23908265A>G	GRCh37
NC_000013.9:g.22806265A>G	NCBI36
NG_012342.1:g.104577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19659T>C	ENSP00000508399.1:n.2185+19659T>C
ENST00000682944.1:c.9777T>C	ENSP00000507173.1:p.Phe3259=
ENST00000683210.1:c.2185+19659T>C	ENSP00000506739.1:n.2185+19659T>C
ENST00000683270.1:c.6445+3296T>C	ENSP00000507624.1:n.6445+3296T>C
ENST00000683367.1:c.2177-4642T>C	ENSP00000507780.1:n.2177-4642T>C
ENST00000683489.1:c.2292-4174T>C	ENSP00000508403.1:n.2292-4174T>C
ENST00000683680.1:c.2319-4174T>C	ENSP00000507223.1:n.2319-4174T>C
ENST00000684163.1:c.2204-4642T>C	ENSP00000508262.1:n.2204-4642T>C
ENST00000684196.1:n.4543-4642T>C
ENST00000684325.1:c.2186-12452T>C	ENSP00000508121.1:n.2186-12452T>C
ENST00000684385.1:c.2221-4642T>C	ENSP00000507855.1:n.2221-4642T>C
ENST00000684497.1:c.2186-11482T>C	ENSP00000507057.1:n.2186-11482T>C
ENST00000382292.9:c.9750T>C MANE Select	ENSP00000371729.3:p.Phe3250=
ENST00000423156.2:c.2186-4642T>C	ENSP00000390925.2:n.2186-4642T>C
ENST00000455470.6:c.2432-4642T>C	ENSP00000406565.2:n.2432-4642T>C
ENST00000382292.7:c.9750T>C	ENSP00000371729.3:p.Phe3250=
ENST00000382298.7:c.9750T>C	ENSP00000371735.3:p.Phe3250=
ENST00000402364.1:c.7500T>C	ENSP00000385844.1:p.Phe2500=
ENST00000423156.1:c.1058-4642T>C	ENSP00000390925.1:n.1058-4642T>C
ENST00000455470.5:c.2130-4642T>C
NM_001278055.1:c.9309T>C	NP_001264984.1:p.Phe3103=
NM_014363.5:c.9750T>C	NP_055178.3:p.Phe3250=
XM_005266338.1:c.9777T>C	XP_005266395.1:p.Phe3259=
XM_011535038.1:c.9801T>C	XP_011533340.1:p.Phe3267=
XM_011535039.1:c.9768T>C	XP_011533341.1:p.Phe3256=
XM_005266338.2:c.9777T>C	XP_005266395.1:p.Phe3259=
XM_011535039.2:c.9768T>C	XP_011533341.1:p.Phe3256=
XM_017020539.1:c.9741T>C	XP_016876028.1:p.Phe3247=
XM_024449337.1:c.9777T>C	XP_024305105.1:p.Phe3259=
NM_014363.6:c.9750T>C MANE Select	NP_055178.3:p.Phe3250=
NM_001278055.2:c.9309T>C	NP_001264984.1:p.Phe3103=