Canonical Allele Identifier: CA387515039

Gene: SACS

Linked Data

• ClinVar Variation Id: 2714976
• ClinVar RCV Id: RCV003590605
• dbSNP Id: rs1199241042
• gnomAD v2: 13-23908848-T-C
• gnomAD v4: 13-23334709-T-C
• MyVariant Identifiers: chr13:g.23908848T>C (hg19) ; chr13:g.23334709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334709T>C , CM000675.2:g.23334709T>C	GRCh38
NC_000013.10:g.23908848T>C , CM000675.1:g.23908848T>C	GRCh37
NC_000013.9:g.22806848T>C	NCBI36
NG_012342.1:g.103994A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19076A>G	ENSP00000508399.1:n.2185+19076A>G
ENST00000682944.1:c.9194A>G	ENSP00000507173.1:p.Tyr3065Cys
ENST00000683210.1:c.2185+19076A>G	ENSP00000506739.1:n.2185+19076A>G
ENST00000683270.1:c.6445+2713A>G	ENSP00000507624.1:n.6445+2713A>G
ENST00000683367.1:c.2177-5225A>G	ENSP00000507780.1:n.2177-5225A>G
ENST00000683489.1:c.2292-4757A>G	ENSP00000508403.1:n.2292-4757A>G
ENST00000683680.1:c.2319-4757A>G	ENSP00000507223.1:n.2319-4757A>G
ENST00000684163.1:c.2204-5225A>G	ENSP00000508262.1:n.2204-5225A>G
ENST00000684196.1:n.4543-5225A>G
ENST00000684325.1:c.2186-13035A>G	ENSP00000508121.1:n.2186-13035A>G
ENST00000684385.1:c.2221-5225A>G	ENSP00000507855.1:n.2221-5225A>G
ENST00000684497.1:c.2186-12065A>G	ENSP00000507057.1:n.2186-12065A>G
ENST00000382292.9:c.9167A>G MANE Select	ENSP00000371729.3:p.Tyr3056Cys
ENST00000423156.2:c.2186-5225A>G	ENSP00000390925.2:n.2186-5225A>G
ENST00000455470.6:c.2432-5225A>G	ENSP00000406565.2:n.2432-5225A>G
ENST00000382292.7:c.9167A>G	ENSP00000371729.3:p.Tyr3056Cys
ENST00000382298.7:c.9167A>G	ENSP00000371735.3:p.Tyr3056Cys
ENST00000402364.1:c.6917A>G	ENSP00000385844.1:p.Tyr2306Cys
ENST00000423156.1:c.1058-5225A>G	ENSP00000390925.1:n.1058-5225A>G
ENST00000455470.5:c.2130-5225A>G
NM_001278055.1:c.8726A>G	NP_001264984.1:p.Tyr2909Cys
NM_014363.5:c.9167A>G	NP_055178.3:p.Tyr3056Cys
XM_005266338.1:c.9194A>G	XP_005266395.1:p.Tyr3065Cys
XM_011535038.1:c.9218A>G	XP_011533340.1:p.Tyr3073Cys
XM_011535039.1:c.9185A>G	XP_011533341.1:p.Tyr3062Cys
XM_005266338.2:c.9194A>G	XP_005266395.1:p.Tyr3065Cys
XM_011535039.2:c.9185A>G	XP_011533341.1:p.Tyr3062Cys
XM_017020539.1:c.9158A>G	XP_016876028.1:p.Tyr3053Cys
XM_024449337.1:c.9194A>G	XP_024305105.1:p.Tyr3065Cys
NM_014363.6:c.9167A>G MANE Select	NP_055178.3:p.Tyr3056Cys
NM_001278055.2:c.8726A>G	NP_001264984.1:p.Tyr2909Cys