Canonical Allele Identifier: CA246652467

Gene: SACS

Linked Data

• dbSNP Id: rs967523899
• gnomAD v4: 13-23333450-C-A
• MyVariant Identifiers: chr13:g.23907589C>A (hg19) ; chr13:g.23333450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333450C>A , CM000675.2:g.23333450C>A	GRCh38
NC_000013.10:g.23907589C>A , CM000675.1:g.23907589C>A	GRCh37
NC_000013.9:g.22805589C>A	NCBI36
NG_012342.1:g.105253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20335G>T	ENSP00000508399.1:n.2185+20335G>T
ENST00000682944.1:c.10453G>T	ENSP00000507173.1:p.Val3485Leu
ENST00000683210.1:c.2185+20335G>T	ENSP00000506739.1:n.2185+20335G>T
ENST00000683270.1:c.6446-3966G>T	ENSP00000507624.1:n.6446-3966G>T
ENST00000683367.1:c.2177-3966G>T	ENSP00000507780.1:n.2177-3966G>T
ENST00000683489.1:c.2292-3498G>T	ENSP00000508403.1:n.2292-3498G>T
ENST00000683680.1:c.2319-3498G>T	ENSP00000507223.1:n.2319-3498G>T
ENST00000684163.1:c.2204-3966G>T	ENSP00000508262.1:n.2204-3966G>T
ENST00000684196.1:n.4543-3966G>T
ENST00000684325.1:c.2186-11776G>T	ENSP00000508121.1:n.2186-11776G>T
ENST00000684385.1:c.2221-3966G>T	ENSP00000507855.1:n.2221-3966G>T
ENST00000684497.1:c.2186-10806G>T	ENSP00000507057.1:n.2186-10806G>T
ENST00000382292.9:c.10426G>T MANE Select	ENSP00000371729.3:p.Val3476Leu
ENST00000423156.2:c.2186-3966G>T	ENSP00000390925.2:n.2186-3966G>T
ENST00000455470.6:c.2432-3966G>T	ENSP00000406565.2:n.2432-3966G>T
ENST00000382292.7:c.10426G>T	ENSP00000371729.3:p.Val3476Leu
ENST00000382298.7:c.10426G>T	ENSP00000371735.3:p.Val3476Leu
ENST00000402364.1:c.8176G>T	ENSP00000385844.1:p.Val2726Leu
ENST00000423156.1:c.1058-3966G>T	ENSP00000390925.1:n.1058-3966G>T
ENST00000455470.5:c.2130-3966G>T
NM_001278055.1:c.9985G>T	NP_001264984.1:p.Val3329Leu
NM_014363.5:c.10426G>T	NP_055178.3:p.Val3476Leu
XM_005266338.1:c.10453G>T	XP_005266395.1:p.Val3485Leu
XM_011535038.1:c.10477G>T	XP_011533340.1:p.Val3493Leu
XM_011535039.1:c.10444G>T	XP_011533341.1:p.Val3482Leu
XM_005266338.2:c.10453G>T	XP_005266395.1:p.Val3485Leu
XM_011535039.2:c.10444G>T	XP_011533341.1:p.Val3482Leu
XM_017020539.1:c.10417G>T	XP_016876028.1:p.Val3473Leu
XM_024449337.1:c.10453G>T	XP_024305105.1:p.Val3485Leu
NM_014363.6:c.10426G>T MANE Select	NP_055178.3:p.Val3476Leu
NM_001278055.2:c.9985G>T	NP_001264984.1:p.Val3329Leu