Canonical Allele Identifier: CA483159811

Gene: SACS

Linked Data

• gnomAD v4: 13-23334785-G-A
• MyVariant Identifiers: chr13:g.23908924G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334785G>A , CM000675.2:g.23334785G>A	GRCh38
NC_000013.10:g.23908924G>A , CM000675.1:g.23908924G>A	GRCh37
NC_000013.9:g.22806924G>A	NCBI36
NG_012342.1:g.103918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19000C>T	ENSP00000508399.1:n.2185+19000C>T
ENST00000682944.1:c.9118C>T	ENSP00000507173.1:p.Leu3040=
ENST00000683210.1:c.2185+19000C>T	ENSP00000506739.1:n.2185+19000C>T
ENST00000683270.1:c.6445+2637C>T	ENSP00000507624.1:n.6445+2637C>T
ENST00000683367.1:c.2177-5301C>T	ENSP00000507780.1:n.2177-5301C>T
ENST00000683489.1:c.2292-4833C>T	ENSP00000508403.1:n.2292-4833C>T
ENST00000683680.1:c.2319-4833C>T	ENSP00000507223.1:n.2319-4833C>T
ENST00000684163.1:c.2204-5301C>T	ENSP00000508262.1:n.2204-5301C>T
ENST00000684196.1:n.4543-5301C>T
ENST00000684325.1:c.2186-13111C>T	ENSP00000508121.1:n.2186-13111C>T
ENST00000684385.1:c.2221-5301C>T	ENSP00000507855.1:n.2221-5301C>T
ENST00000684497.1:c.2186-12141C>T	ENSP00000507057.1:n.2186-12141C>T
ENST00000382292.9:c.9091C>T MANE Select	ENSP00000371729.3:p.Leu3031=
ENST00000423156.2:c.2186-5301C>T	ENSP00000390925.2:n.2186-5301C>T
ENST00000455470.6:c.2432-5301C>T	ENSP00000406565.2:n.2432-5301C>T
ENST00000382292.7:c.9091C>T	ENSP00000371729.3:p.Leu3031=
ENST00000382298.7:c.9091C>T	ENSP00000371735.3:p.Leu3031=
ENST00000402364.1:c.6841C>T	ENSP00000385844.1:p.Leu2281=
ENST00000423156.1:c.1058-5301C>T	ENSP00000390925.1:n.1058-5301C>T
ENST00000455470.5:c.2130-5301C>T
NM_001278055.1:c.8650C>T	NP_001264984.1:p.Leu2884=
NM_014363.5:c.9091C>T	NP_055178.3:p.Leu3031=
XM_005266338.1:c.9118C>T	XP_005266395.1:p.Leu3040=
XM_011535038.1:c.9142C>T	XP_011533340.1:p.Leu3048=
XM_011535039.1:c.9109C>T	XP_011533341.1:p.Leu3037=
XM_005266338.2:c.9118C>T	XP_005266395.1:p.Leu3040=
XM_011535039.2:c.9109C>T	XP_011533341.1:p.Leu3037=
XM_017020539.1:c.9082C>T	XP_016876028.1:p.Leu3028=
XM_024449337.1:c.9118C>T	XP_024305105.1:p.Leu3040=
NM_014363.6:c.9091C>T MANE Select	NP_055178.3:p.Leu3031=
NM_001278055.2:c.8650C>T	NP_001264984.1:p.Leu2884=