Canonical Allele Identifier: CA387514319

Gene: SACS

Linked Data

• gnomAD v4: 13-23334385-T-C
• MyVariant Identifiers: chr13:g.23908524T>C (hg19) ; chr13:g.23334385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334385T>C , CM000675.2:g.23334385T>C	GRCh38
NC_000013.10:g.23908524T>C , CM000675.1:g.23908524T>C	GRCh37
NC_000013.9:g.22806524T>C	NCBI36
NG_012342.1:g.104318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19400A>G	ENSP00000508399.1:n.2185+19400A>G
ENST00000682944.1:c.9518A>G	ENSP00000507173.1:p.Gln3173Arg
ENST00000683210.1:c.2185+19400A>G	ENSP00000506739.1:n.2185+19400A>G
ENST00000683270.1:c.6445+3037A>G	ENSP00000507624.1:n.6445+3037A>G
ENST00000683367.1:c.2177-4901A>G	ENSP00000507780.1:n.2177-4901A>G
ENST00000683489.1:c.2292-4433A>G	ENSP00000508403.1:n.2292-4433A>G
ENST00000683680.1:c.2319-4433A>G	ENSP00000507223.1:n.2319-4433A>G
ENST00000684163.1:c.2204-4901A>G	ENSP00000508262.1:n.2204-4901A>G
ENST00000684196.1:n.4543-4901A>G
ENST00000684325.1:c.2186-12711A>G	ENSP00000508121.1:n.2186-12711A>G
ENST00000684385.1:c.2221-4901A>G	ENSP00000507855.1:n.2221-4901A>G
ENST00000684497.1:c.2186-11741A>G	ENSP00000507057.1:n.2186-11741A>G
ENST00000382292.9:c.9491A>G MANE Select	ENSP00000371729.3:p.Gln3164Arg
ENST00000423156.2:c.2186-4901A>G	ENSP00000390925.2:n.2186-4901A>G
ENST00000455470.6:c.2432-4901A>G	ENSP00000406565.2:n.2432-4901A>G
ENST00000382292.7:c.9491A>G	ENSP00000371729.3:p.Gln3164Arg
ENST00000382298.7:c.9491A>G	ENSP00000371735.3:p.Gln3164Arg
ENST00000402364.1:c.7241A>G	ENSP00000385844.1:p.Gln2414Arg
ENST00000423156.1:c.1058-4901A>G	ENSP00000390925.1:n.1058-4901A>G
ENST00000455470.5:c.2130-4901A>G
NM_001278055.1:c.9050A>G	NP_001264984.1:p.Gln3017Arg
NM_014363.5:c.9491A>G	NP_055178.3:p.Gln3164Arg
XM_005266338.1:c.9518A>G	XP_005266395.1:p.Gln3173Arg
XM_011535038.1:c.9542A>G	XP_011533340.1:p.Gln3181Arg
XM_011535039.1:c.9509A>G	XP_011533341.1:p.Gln3170Arg
XM_005266338.2:c.9518A>G	XP_005266395.1:p.Gln3173Arg
XM_011535039.2:c.9509A>G	XP_011533341.1:p.Gln3170Arg
XM_017020539.1:c.9482A>G	XP_016876028.1:p.Gln3161Arg
XM_024449337.1:c.9518A>G	XP_024305105.1:p.Gln3173Arg
NM_014363.6:c.9491A>G MANE Select	NP_055178.3:p.Gln3164Arg
NM_001278055.2:c.9050A>G	NP_001264984.1:p.Gln3017Arg