Canonical Allele Identifier: CA387505947

Gene: SACS

Linked Data

• ClinVar Variation Id: 1349714
• ClinVar RCV Id: RCV002039215
• dbSNP Id: rs2137551679
• gnomAD v4: 13-23330754-C-G
• MyVariant Identifiers: chr13:g.23904893C>G (hg19) ; chr13:g.23330754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330754C>G , CM000675.2:g.23330754C>G	GRCh38
NC_000013.10:g.23904893C>G , CM000675.1:g.23904893C>G	GRCh37
NC_000013.9:g.22802893C>G	NCBI36
NG_012342.1:g.107949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18639G>C	ENSP00000508399.1:n.2186-18639G>C
ENST00000682944.1:c.13149G>C	ENSP00000507173.1:p.Arg4383Ser
ENST00000683210.1:c.2185+23031G>C	ENSP00000506739.1:n.2185+23031G>C
ENST00000683270.1:c.6446-1270G>C	ENSP00000507624.1:n.6446-1270G>C
ENST00000683367.1:c.2177-1270G>C	ENSP00000507780.1:n.2177-1270G>C
ENST00000683489.1:c.2292-802G>C	ENSP00000508403.1:n.2292-802G>C
ENST00000683680.1:c.2319-802G>C	ENSP00000507223.1:n.2319-802G>C
ENST00000684163.1:c.2204-1270G>C	ENSP00000508262.1:n.2204-1270G>C
ENST00000684196.1:n.4543-1270G>C
ENST00000684325.1:c.2186-9080G>C	ENSP00000508121.1:n.2186-9080G>C
ENST00000684385.1:c.2221-1270G>C	ENSP00000507855.1:n.2221-1270G>C
ENST00000684497.1:c.2186-8110G>C	ENSP00000507057.1:n.2186-8110G>C
ENST00000382292.9:c.13122G>C MANE Select	ENSP00000371729.3:p.Arg4374Ser
ENST00000423156.2:c.2186-1270G>C	ENSP00000390925.2:n.2186-1270G>C
ENST00000455470.6:c.2432-1270G>C	ENSP00000406565.2:n.2432-1270G>C
ENST00000382292.7:c.13122G>C	ENSP00000371729.3:p.Arg4374Ser
ENST00000382298.7:c.13122G>C	ENSP00000371735.3:p.Arg4374Ser
ENST00000402364.1:c.10872G>C	ENSP00000385844.1:p.Arg3624Ser
ENST00000423156.1:c.1058-1270G>C	ENSP00000390925.1:n.1058-1270G>C
ENST00000455470.5:c.2130-1270G>C
NM_001278055.1:c.12681G>C	NP_001264984.1:p.Arg4227Ser
NM_014363.5:c.13122G>C	NP_055178.3:p.Arg4374Ser
XM_005266338.1:c.13149G>C	XP_005266395.1:p.Arg4383Ser
XM_011535038.1:c.13173G>C	XP_011533340.1:p.Arg4391Ser
XM_011535039.1:c.13140G>C	XP_011533341.1:p.Arg4380Ser
XM_005266338.2:c.13149G>C	XP_005266395.1:p.Arg4383Ser
XM_011535039.2:c.13140G>C	XP_011533341.1:p.Arg4380Ser
XM_017020539.1:c.13113G>C	XP_016876028.1:p.Arg4371Ser
XM_024449337.1:c.13149G>C	XP_024305105.1:p.Arg4383Ser
NM_014363.6:c.13122G>C MANE Select	NP_055178.3:p.Arg4374Ser
NM_001278055.2:c.12681G>C	NP_001264984.1:p.Arg4227Ser