Canonical Allele Identifier: CA483162210

Gene: SACS

Linked Data

• gnomAD v4: 13-23338533-A-T
• MyVariant Identifiers: chr13:g.23912672A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338533A>T , CM000675.2:g.23338533A>T	GRCh38
NC_000013.10:g.23912672A>T , CM000675.1:g.23912672A>T	GRCh37
NC_000013.9:g.22810672A>T	NCBI36
NG_012342.1:g.100170T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15252T>A	ENSP00000508399.1:n.2185+15252T>A
ENST00000682944.1:c.5370T>A	ENSP00000507173.1:p.Leu1790=
ENST00000683210.1:c.2185+15252T>A	ENSP00000506739.1:n.2185+15252T>A
ENST00000683270.1:c.5334T>A	ENSP00000507624.1:p.Leu1778=
ENST00000683367.1:c.2177-9049T>A	ENSP00000507780.1:n.2177-9049T>A
ENST00000683489.1:c.2291+3052T>A	ENSP00000508403.1:n.2291+3052T>A
ENST00000683680.1:c.2318+3052T>A	ENSP00000507223.1:n.2318+3052T>A
ENST00000684163.1:c.2203+8278T>A	ENSP00000508262.1:n.2203+8278T>A
ENST00000684196.1:n.4543-9049T>A
ENST00000684325.1:c.2185+15252T>A	ENSP00000508121.1:n.2185+15252T>A
ENST00000684385.1:c.2220+8278T>A	ENSP00000507855.1:n.2220+8278T>A
ENST00000684497.1:c.2185+15252T>A	ENSP00000507057.1:n.2185+15252T>A
ENST00000382292.9:c.5343T>A MANE Select	ENSP00000371729.3:p.Leu1781=
ENST00000423156.2:c.2186-9049T>A	ENSP00000390925.2:n.2186-9049T>A
ENST00000455470.6:c.2431+2912T>A	ENSP00000406565.2:n.2431+2912T>A
ENST00000382292.7:c.5343T>A	ENSP00000371729.3:p.Leu1781=
ENST00000382298.7:c.5343T>A	ENSP00000371735.3:p.Leu1781=
ENST00000402364.1:c.3093T>A	ENSP00000385844.1:p.Leu1031=
ENST00000423156.1:c.1058-9049T>A	ENSP00000390925.1:n.1058-9049T>A
ENST00000455470.5:c.2129+2912T>A
NM_001278055.1:c.4902T>A	NP_001264984.1:p.Leu1634=
NM_014363.5:c.5343T>A	NP_055178.3:p.Leu1781=
XM_005266338.1:c.5370T>A	XP_005266395.1:p.Leu1790=
XM_011535038.1:c.5394T>A	XP_011533340.1:p.Leu1798=
XM_011535039.1:c.5361T>A	XP_011533341.1:p.Leu1787=
XM_005266338.2:c.5370T>A	XP_005266395.1:p.Leu1790=
XM_011535039.2:c.5361T>A	XP_011533341.1:p.Leu1787=
XM_017020539.1:c.5334T>A	XP_016876028.1:p.Leu1778=
XM_024449337.1:c.5370T>A	XP_024305105.1:p.Leu1790=
NM_014363.6:c.5343T>A MANE Select	NP_055178.3:p.Leu1781=
NM_001278055.2:c.4902T>A	NP_001264984.1:p.Leu1634=