Canonical Allele Identifier: CA387505861

Gene: SACS

Linked Data

• ClinVar Variation Id: 1343977
• ClinVar RCV Id: RCV001847522 ; RCV002545259
• dbSNP Id: rs2137551379
• gnomAD v4: 13-23330711-A-C
• MyVariant Identifiers: chr13:g.23904850A>C (hg19) ; chr13:g.23330711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330711A>C , CM000675.2:g.23330711A>C	GRCh38
NC_000013.10:g.23904850A>C , CM000675.1:g.23904850A>C	GRCh37
NC_000013.9:g.22802850A>C	NCBI36
NG_012342.1:g.107992T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18596T>G	ENSP00000508399.1:n.2186-18596T>G
ENST00000682944.1:c.13192T>G	ENSP00000507173.1:p.Ser4398Ala
ENST00000683210.1:c.2185+23074T>G	ENSP00000506739.1:n.2185+23074T>G
ENST00000683270.1:c.6446-1227T>G	ENSP00000507624.1:n.6446-1227T>G
ENST00000683367.1:c.2177-1227T>G	ENSP00000507780.1:n.2177-1227T>G
ENST00000683489.1:c.2292-759T>G	ENSP00000508403.1:n.2292-759T>G
ENST00000683680.1:c.2319-759T>G	ENSP00000507223.1:n.2319-759T>G
ENST00000684163.1:c.2204-1227T>G	ENSP00000508262.1:n.2204-1227T>G
ENST00000684196.1:n.4543-1227T>G
ENST00000684325.1:c.2186-9037T>G	ENSP00000508121.1:n.2186-9037T>G
ENST00000684385.1:c.2221-1227T>G	ENSP00000507855.1:n.2221-1227T>G
ENST00000684497.1:c.2186-8067T>G	ENSP00000507057.1:n.2186-8067T>G
ENST00000382292.9:c.13165T>G MANE Select	ENSP00000371729.3:p.Ser4389Ala
ENST00000423156.2:c.2186-1227T>G	ENSP00000390925.2:n.2186-1227T>G
ENST00000455470.6:c.2432-1227T>G	ENSP00000406565.2:n.2432-1227T>G
ENST00000382292.7:c.13165T>G	ENSP00000371729.3:p.Ser4389Ala
ENST00000382298.7:c.13165T>G	ENSP00000371735.3:p.Ser4389Ala
ENST00000402364.1:c.10915T>G	ENSP00000385844.1:p.Ser3639Ala
ENST00000423156.1:c.1058-1227T>G	ENSP00000390925.1:n.1058-1227T>G
ENST00000455470.5:c.2130-1227T>G
NM_001278055.1:c.12724T>G	NP_001264984.1:p.Ser4242Ala
NM_014363.5:c.13165T>G	NP_055178.3:p.Ser4389Ala
XM_005266338.1:c.13192T>G	XP_005266395.1:p.Ser4398Ala
XM_011535038.1:c.13216T>G	XP_011533340.1:p.Ser4406Ala
XM_011535039.1:c.13183T>G	XP_011533341.1:p.Ser4395Ala
XM_005266338.2:c.13192T>G	XP_005266395.1:p.Ser4398Ala
XM_011535039.2:c.13183T>G	XP_011533341.1:p.Ser4395Ala
XM_017020539.1:c.13156T>G	XP_016876028.1:p.Ser4386Ala
XM_024449337.1:c.13192T>G	XP_024305105.1:p.Ser4398Ala
NM_014363.6:c.13165T>G MANE Select	NP_055178.3:p.Ser4389Ala
NM_001278055.2:c.12724T>G	NP_001264984.1:p.Ser4242Ala