Canonical Allele Identifier: CA6910165

Gene: SACS

Linked Data

• dbSNP Id: rs748606348
• ExAC: 13:23905801 T / C
• gnomAD v2: 13-23905801-T-C
• gnomAD v4: 13-23331662-T-C
• MyVariant Identifiers: chr13:g.23905801T>C (hg19) ; chr13:g.23331662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331662T>C , CM000675.2:g.23331662T>C	GRCh38
NC_000013.10:g.23905801T>C , CM000675.1:g.23905801T>C	GRCh37
NC_000013.9:g.22803801T>C	NCBI36
NG_012342.1:g.107041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-19547A>G	ENSP00000508399.1:n.2186-19547A>G
ENST00000682944.1:c.12241A>G	ENSP00000507173.1:p.Thr4081Ala
ENST00000683210.1:c.2185+22123A>G	ENSP00000506739.1:n.2185+22123A>G
ENST00000683270.1:c.6446-2178A>G	ENSP00000507624.1:n.6446-2178A>G
ENST00000683367.1:c.2177-2178A>G	ENSP00000507780.1:n.2177-2178A>G
ENST00000683489.1:c.2292-1710A>G	ENSP00000508403.1:n.2292-1710A>G
ENST00000683680.1:c.2319-1710A>G	ENSP00000507223.1:n.2319-1710A>G
ENST00000684163.1:c.2204-2178A>G	ENSP00000508262.1:n.2204-2178A>G
ENST00000684196.1:n.4543-2178A>G
ENST00000684325.1:c.2186-9988A>G	ENSP00000508121.1:n.2186-9988A>G
ENST00000684385.1:c.2221-2178A>G	ENSP00000507855.1:n.2221-2178A>G
ENST00000684497.1:c.2186-9018A>G	ENSP00000507057.1:n.2186-9018A>G
ENST00000382292.9:c.12214A>G MANE Select	ENSP00000371729.3:p.Thr4072Ala
ENST00000423156.2:c.2186-2178A>G	ENSP00000390925.2:n.2186-2178A>G
ENST00000455470.6:c.2432-2178A>G	ENSP00000406565.2:n.2432-2178A>G
ENST00000382292.7:c.12214A>G	ENSP00000371729.3:p.Thr4072Ala
ENST00000382298.7:c.12214A>G	ENSP00000371735.3:p.Thr4072Ala
ENST00000402364.1:c.9964A>G	ENSP00000385844.1:p.Thr3322Ala
ENST00000423156.1:c.1058-2178A>G	ENSP00000390925.1:n.1058-2178A>G
ENST00000455470.5:c.2130-2178A>G
NM_001278055.1:c.11773A>G	NP_001264984.1:p.Thr3925Ala
NM_014363.5:c.12214A>G	NP_055178.3:p.Thr4072Ala
XM_005266338.1:c.12241A>G	XP_005266395.1:p.Thr4081Ala
XM_011535038.1:c.12265A>G	XP_011533340.1:p.Thr4089Ala
XM_011535039.1:c.12232A>G	XP_011533341.1:p.Thr4078Ala
XM_005266338.2:c.12241A>G	XP_005266395.1:p.Thr4081Ala
XM_011535039.2:c.12232A>G	XP_011533341.1:p.Thr4078Ala
XM_017020539.1:c.12205A>G	XP_016876028.1:p.Thr4069Ala
XM_024449337.1:c.12241A>G	XP_024305105.1:p.Thr4081Ala
NM_014363.6:c.12214A>G MANE Select	NP_055178.3:p.Thr4072Ala
NM_001278055.2:c.11773A>G	NP_001264984.1:p.Thr3925Ala