Canonical Allele Identifier: CA387537191

Gene: SACS

Linked Data

• dbSNP Id: rs1462949571
• gnomAD v2: 13-23915067-A-C
• gnomAD v4: 13-23340928-A-C
• MyVariant Identifiers: chr13:g.23915067A>C (hg19) ; chr13:g.23340928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340928A>C , CM000675.2:g.23340928A>C	GRCh38
NC_000013.10:g.23915067A>C , CM000675.1:g.23915067A>C	GRCh37
NC_000013.9:g.22813067A>C	NCBI36
NG_012342.1:g.97775T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12857T>G	ENSP00000508399.1:n.2185+12857T>G
ENST00000682944.1:c.2975T>G	ENSP00000507173.1:p.Ile992Arg
ENST00000683210.1:c.2185+12857T>G	ENSP00000506739.1:n.2185+12857T>G
ENST00000683270.1:c.2939T>G	ENSP00000507624.1:p.Ile980Arg
ENST00000683367.1:c.2177-11444T>G	ENSP00000507780.1:n.2177-11444T>G
ENST00000683489.1:c.2291+657T>G	ENSP00000508403.1:n.2291+657T>G
ENST00000683680.1:c.2318+657T>G	ENSP00000507223.1:n.2318+657T>G
ENST00000684163.1:c.2203+5883T>G	ENSP00000508262.1:n.2203+5883T>G
ENST00000684196.1:n.4543-11444T>G
ENST00000684325.1:c.2185+12857T>G	ENSP00000508121.1:n.2185+12857T>G
ENST00000684385.1:c.2220+5883T>G	ENSP00000507855.1:n.2220+5883T>G
ENST00000684497.1:c.2185+12857T>G	ENSP00000507057.1:n.2185+12857T>G
ENST00000382292.9:c.2948T>G MANE Select	ENSP00000371729.3:p.Ile983Arg
ENST00000423156.2:c.2186-11444T>G	ENSP00000390925.2:n.2186-11444T>G
ENST00000455470.6:c.2431+517T>G	ENSP00000406565.2:n.2431+517T>G
ENST00000382292.7:c.2948T>G	ENSP00000371729.3:p.Ile983Arg
ENST00000382298.7:c.2948T>G	ENSP00000371735.3:p.Ile983Arg
ENST00000402364.1:c.698T>G	ENSP00000385844.1:p.Ile233Arg
ENST00000423156.1:c.1058-11444T>G	ENSP00000390925.1:n.1058-11444T>G
ENST00000455470.5:c.2129+517T>G
NM_001278055.1:c.2507T>G	NP_001264984.1:p.Ile836Arg
NM_014363.5:c.2948T>G	NP_055178.3:p.Ile983Arg
XM_005266338.1:c.2975T>G	XP_005266395.1:p.Ile992Arg
XM_011535038.1:c.2999T>G	XP_011533340.1:p.Ile1000Arg
XM_011535039.1:c.2966T>G	XP_011533341.1:p.Ile989Arg
XM_005266338.2:c.2975T>G	XP_005266395.1:p.Ile992Arg
XM_011535039.2:c.2966T>G	XP_011533341.1:p.Ile989Arg
XM_017020539.1:c.2939T>G	XP_016876028.1:p.Ile980Arg
XM_024449337.1:c.2975T>G	XP_024305105.1:p.Ile992Arg
NM_014363.6:c.2948T>G MANE Select	NP_055178.3:p.Ile983Arg
NM_001278055.2:c.2507T>G	NP_001264984.1:p.Ile836Arg