Canonical Allele Identifier: CA6910822

Gene: SACS

Linked Data

• ClinVar Variation Id: 1458362
• ClinVar RCV Id: RCV001972862 ; RCV003471188
• dbSNP Id: rs780332615
• ExAC: 13:23909908 G / A
• gnomAD v2: 13-23909908-G-A
• gnomAD v4: 13-23335769-G-A
• COSMIC: COSM4046534 ; COSM4046535
• MyVariant Identifiers: chr13:g.23909908G>A (hg19) ; chr13:g.23335769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335769G>A , CM000675.2:g.23335769G>A	GRCh38
NC_000013.10:g.23909908G>A , CM000675.1:g.23909908G>A	GRCh37
NC_000013.9:g.22807908G>A	NCBI36
NG_012342.1:g.102934C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+18016C>T	ENSP00000508399.1:n.2185+18016C>T
ENST00000682944.1:c.8134C>T	ENSP00000507173.1:p.Arg2712Cys
ENST00000683210.1:c.2185+18016C>T	ENSP00000506739.1:n.2185+18016C>T
ENST00000683270.1:c.6445+1653C>T	ENSP00000507624.1:n.6445+1653C>T
ENST00000683367.1:c.2177-6285C>T	ENSP00000507780.1:n.2177-6285C>T
ENST00000683489.1:c.2292-5817C>T	ENSP00000508403.1:n.2292-5817C>T
ENST00000683680.1:c.2319-5817C>T	ENSP00000507223.1:n.2319-5817C>T
ENST00000684163.1:c.2204-6285C>T	ENSP00000508262.1:n.2204-6285C>T
ENST00000684196.1:n.4543-6285C>T
ENST00000684325.1:c.2186-14095C>T	ENSP00000508121.1:n.2186-14095C>T
ENST00000684385.1:c.2221-6285C>T	ENSP00000507855.1:n.2221-6285C>T
ENST00000684497.1:c.2186-13125C>T	ENSP00000507057.1:n.2186-13125C>T
ENST00000382292.9:c.8107C>T MANE Select	ENSP00000371729.3:p.Arg2703Cys
ENST00000423156.2:c.2186-6285C>T	ENSP00000390925.2:n.2186-6285C>T
ENST00000455470.6:c.2431+5676C>T	ENSP00000406565.2:n.2431+5676C>T
ENST00000382292.7:c.8107C>T	ENSP00000371729.3:p.Arg2703Cys
ENST00000382298.7:c.8107C>T	ENSP00000371735.3:p.Arg2703Cys
ENST00000402364.1:c.5857C>T	ENSP00000385844.1:p.Arg1953Cys
ENST00000423156.1:c.1058-6285C>T	ENSP00000390925.1:n.1058-6285C>T
ENST00000455470.5:c.2129+5676C>T
NM_001278055.1:c.7666C>T	NP_001264984.1:p.Arg2556Cys
NM_014363.5:c.8107C>T	NP_055178.3:p.Arg2703Cys
XM_005266338.1:c.8134C>T	XP_005266395.1:p.Arg2712Cys
XM_011535038.1:c.8158C>T	XP_011533340.1:p.Arg2720Cys
XM_011535039.1:c.8125C>T	XP_011533341.1:p.Arg2709Cys
XM_005266338.2:c.8134C>T	XP_005266395.1:p.Arg2712Cys
XM_011535039.2:c.8125C>T	XP_011533341.1:p.Arg2709Cys
XM_017020539.1:c.8098C>T	XP_016876028.1:p.Arg2700Cys
XM_024449337.1:c.8134C>T	XP_024305105.1:p.Arg2712Cys
NM_014363.6:c.8107C>T MANE Select	NP_055178.3:p.Arg2703Cys
NM_001278055.2:c.7666C>T	NP_001264984.1:p.Arg2556Cys