Canonical Allele Identifier: CA387548169

Gene: SACS

Linked Data

• dbSNP Id: rs1213867327
• gnomAD v2: 13-23929264-A-C
• gnomAD v4: 13-23355125-A-C
• MyVariant Identifiers: chr13:g.23929264A>C (hg19) ; chr13:g.23355125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355125A>C , CM000675.2:g.23355125A>C	GRCh38
NC_000013.10:g.23929264A>C , CM000675.1:g.23929264A>C	GRCh37
NC_000013.9:g.22827264A>C	NCBI36
NG_012342.1:g.83578T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1487T>G	ENSP00000508399.1:p.Leu496Arg
ENST00000682944.1:c.1487T>G	ENSP00000507173.1:p.Leu496Arg
ENST00000683154.1:n.1625T>G
ENST00000683210.1:c.1487T>G	ENSP00000506739.1:p.Leu496Arg
ENST00000683270.1:c.1478T>G	ENSP00000507624.1:p.Leu493Arg
ENST00000683367.1:c.1478T>G	ENSP00000507780.1:p.Leu493Arg
ENST00000683489.1:c.1487T>G	ENSP00000508403.1:p.Leu496Arg
ENST00000683680.1:c.1487T>G	ENSP00000507223.1:p.Leu496Arg
ENST00000684163.1:c.1478T>G	ENSP00000508262.1:p.Leu493Arg
ENST00000684196.1:n.3844T>G
ENST00000684325.1:c.1487T>G	ENSP00000508121.1:p.Leu496Arg
ENST00000684385.1:c.1487T>G	ENSP00000507855.1:p.Leu496Arg
ENST00000684497.1:c.1487T>G	ENSP00000507057.1:p.Leu496Arg
ENST00000382292.9:c.1487T>G MANE Select	ENSP00000371729.3:p.Leu496Arg
ENST00000423156.2:c.1487T>G	ENSP00000390925.2:p.Leu496Arg
ENST00000455470.6:c.1487T>G	ENSP00000406565.2:p.Leu496Arg
ENST00000382292.7:c.1487T>G	ENSP00000371729.3:p.Leu496Arg
ENST00000382298.7:c.1487T>G	ENSP00000371735.3:p.Leu496Arg
ENST00000402364.1:c.-764T>G	ENSP00000385844.1:n.-764T>G
ENST00000423156.1:c.359T>G	ENSP00000390925.1:p.Leu120Arg
ENST00000455470.5:c.1185T>G
NM_001278055.1:c.1046T>G	NP_001264984.1:p.Leu349Arg
NM_014363.5:c.1487T>G	NP_055178.3:p.Leu496Arg
XM_005266338.1:c.1487T>G	XP_005266395.1:p.Leu496Arg
XM_011535038.1:c.1511T>G	XP_011533340.1:p.Leu504Arg
XM_011535039.1:c.1478T>G	XP_011533341.1:p.Leu493Arg
XM_005266338.2:c.1487T>G	XP_005266395.1:p.Leu496Arg
XM_011535039.2:c.1478T>G	XP_011533341.1:p.Leu493Arg
XM_017020539.1:c.1478T>G	XP_016876028.1:p.Leu493Arg
XM_024449337.1:c.1487T>G	XP_024305105.1:p.Leu496Arg
NM_014363.6:c.1487T>G MANE Select	NP_055178.3:p.Leu496Arg
NM_001278055.2:c.1046T>G	NP_001264984.1:p.Leu349Arg