Canonical Allele Identifier: CA6910073

Gene: SACS

Linked Data

• ClinVar Variation Id: 699710
• ClinVar RCV Id: RCV000867623 ; RCV001113355 ; RCV001288702 ; RCV001847073
• dbSNP Id: rs370655945
• ExAC: 13:23905186 G / A
• gnomAD v2: 13-23905186-G-A
• gnomAD v3: 13-23331047-G-A
• gnomAD v4: 13-23331047-G-A
• MyVariant Identifiers: chr13:g.23905186G>A (hg19) ; chr13:g.23331047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331047G>A , CM000675.2:g.23331047G>A	GRCh38
NC_000013.10:g.23905186G>A , CM000675.1:g.23905186G>A	GRCh37
NC_000013.9:g.22803186G>A	NCBI36
NG_012342.1:g.107656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18932C>T	ENSP00000508399.1:n.2186-18932C>T
ENST00000682944.1:c.12856C>T	ENSP00000507173.1:p.Pro4286Ser
ENST00000683210.1:c.2185+22738C>T	ENSP00000506739.1:n.2185+22738C>T
ENST00000683270.1:c.6446-1563C>T	ENSP00000507624.1:n.6446-1563C>T
ENST00000683367.1:c.2177-1563C>T	ENSP00000507780.1:n.2177-1563C>T
ENST00000683489.1:c.2292-1095C>T	ENSP00000508403.1:n.2292-1095C>T
ENST00000683680.1:c.2319-1095C>T	ENSP00000507223.1:n.2319-1095C>T
ENST00000684163.1:c.2204-1563C>T	ENSP00000508262.1:n.2204-1563C>T
ENST00000684196.1:n.4543-1563C>T
ENST00000684325.1:c.2186-9373C>T	ENSP00000508121.1:n.2186-9373C>T
ENST00000684385.1:c.2221-1563C>T	ENSP00000507855.1:n.2221-1563C>T
ENST00000684497.1:c.2186-8403C>T	ENSP00000507057.1:n.2186-8403C>T
ENST00000382292.9:c.12829C>T MANE Select	ENSP00000371729.3:p.Pro4277Ser
ENST00000423156.2:c.2186-1563C>T	ENSP00000390925.2:n.2186-1563C>T
ENST00000455470.6:c.2432-1563C>T	ENSP00000406565.2:n.2432-1563C>T
ENST00000382292.7:c.12829C>T	ENSP00000371729.3:p.Pro4277Ser
ENST00000382298.7:c.12829C>T	ENSP00000371735.3:p.Pro4277Ser
ENST00000402364.1:c.10579C>T	ENSP00000385844.1:p.Pro3527Ser
ENST00000423156.1:c.1058-1563C>T	ENSP00000390925.1:n.1058-1563C>T
ENST00000455470.5:c.2130-1563C>T
NM_001278055.1:c.12388C>T	NP_001264984.1:p.Pro4130Ser
NM_014363.5:c.12829C>T	NP_055178.3:p.Pro4277Ser
XM_005266338.1:c.12856C>T	XP_005266395.1:p.Pro4286Ser
XM_011535038.1:c.12880C>T	XP_011533340.1:p.Pro4294Ser
XM_011535039.1:c.12847C>T	XP_011533341.1:p.Pro4283Ser
XM_005266338.2:c.12856C>T	XP_005266395.1:p.Pro4286Ser
XM_011535039.2:c.12847C>T	XP_011533341.1:p.Pro4283Ser
XM_017020539.1:c.12820C>T	XP_016876028.1:p.Pro4274Ser
XM_024449337.1:c.12856C>T	XP_024305105.1:p.Pro4286Ser
NM_014363.6:c.12829C>T MANE Select	NP_055178.3:p.Pro4277Ser
NM_001278055.2:c.12388C>T	NP_001264984.1:p.Pro4130Ser