Canonical Allele Identifier: CA387523550

Gene: SACS

Linked Data

• ClinVar Variation Id: 2711534
• ClinVar RCV Id: RCV003590508
• dbSNP Id: rs920431033
• gnomAD v2: 13-23911758-T-C
• gnomAD v4: 13-23337619-T-C
• MyVariant Identifiers: chr13:g.23911758T>C (hg19) ; chr13:g.23337619T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337619T>C , CM000675.2:g.23337619T>C	GRCh38
NC_000013.10:g.23911758T>C , CM000675.1:g.23911758T>C	GRCh37
NC_000013.9:g.22809758T>C	NCBI36
NG_012342.1:g.101084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16166A>G	ENSP00000508399.1:n.2185+16166A>G
ENST00000682944.1:c.6284A>G	ENSP00000507173.1:p.Asp2095Gly
ENST00000683210.1:c.2185+16166A>G	ENSP00000506739.1:n.2185+16166A>G
ENST00000683270.1:c.6248A>G	ENSP00000507624.1:p.Asp2083Gly
ENST00000683367.1:c.2177-8135A>G	ENSP00000507780.1:n.2177-8135A>G
ENST00000683489.1:c.2291+3966A>G	ENSP00000508403.1:n.2291+3966A>G
ENST00000683680.1:c.2318+3966A>G	ENSP00000507223.1:n.2318+3966A>G
ENST00000684163.1:c.2204-8135A>G	ENSP00000508262.1:n.2204-8135A>G
ENST00000684196.1:n.4543-8135A>G
ENST00000684325.1:c.2186-15945A>G	ENSP00000508121.1:n.2186-15945A>G
ENST00000684385.1:c.2221-8135A>G	ENSP00000507855.1:n.2221-8135A>G
ENST00000684497.1:c.2186-14975A>G	ENSP00000507057.1:n.2186-14975A>G
ENST00000382292.9:c.6257A>G MANE Select	ENSP00000371729.3:p.Asp2086Gly
ENST00000423156.2:c.2186-8135A>G	ENSP00000390925.2:n.2186-8135A>G
ENST00000455470.6:c.2431+3826A>G	ENSP00000406565.2:n.2431+3826A>G
ENST00000382292.7:c.6257A>G	ENSP00000371729.3:p.Asp2086Gly
ENST00000382298.7:c.6257A>G	ENSP00000371735.3:p.Asp2086Gly
ENST00000402364.1:c.4007A>G	ENSP00000385844.1:p.Asp1336Gly
ENST00000423156.1:c.1058-8135A>G	ENSP00000390925.1:n.1058-8135A>G
ENST00000455470.5:c.2129+3826A>G
NM_001278055.1:c.5816A>G	NP_001264984.1:p.Asp1939Gly
NM_014363.5:c.6257A>G	NP_055178.3:p.Asp2086Gly
XM_005266338.1:c.6284A>G	XP_005266395.1:p.Asp2095Gly
XM_011535038.1:c.6308A>G	XP_011533340.1:p.Asp2103Gly
XM_011535039.1:c.6275A>G	XP_011533341.1:p.Asp2092Gly
XM_005266338.2:c.6284A>G	XP_005266395.1:p.Asp2095Gly
XM_011535039.2:c.6275A>G	XP_011533341.1:p.Asp2092Gly
XM_017020539.1:c.6248A>G	XP_016876028.1:p.Asp2083Gly
XM_024449337.1:c.6284A>G	XP_024305105.1:p.Asp2095Gly
NM_014363.6:c.6257A>G MANE Select	NP_055178.3:p.Asp2086Gly
NM_001278055.2:c.5816A>G	NP_001264984.1:p.Asp1939Gly