Canonical Allele Identifier: CA387512985

Gene: SACS

Linked Data

• gnomAD v4: 13-23333785-G-A
• MyVariant Identifiers: chr13:g.23907924G>A (hg19) ; chr13:g.23333785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333785G>A , CM000675.2:g.23333785G>A	GRCh38
NC_000013.10:g.23907924G>A , CM000675.1:g.23907924G>A	GRCh37
NC_000013.9:g.22805924G>A	NCBI36
NG_012342.1:g.104918C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+20000C>T	ENSP00000508399.1:n.2185+20000C>T
ENST00000682944.1:c.10118C>T	ENSP00000507173.1:p.Ala3373Val
ENST00000683210.1:c.2185+20000C>T	ENSP00000506739.1:n.2185+20000C>T
ENST00000683270.1:c.6445+3637C>T	ENSP00000507624.1:n.6445+3637C>T
ENST00000683367.1:c.2177-4301C>T	ENSP00000507780.1:n.2177-4301C>T
ENST00000683489.1:c.2292-3833C>T	ENSP00000508403.1:n.2292-3833C>T
ENST00000683680.1:c.2319-3833C>T	ENSP00000507223.1:n.2319-3833C>T
ENST00000684163.1:c.2204-4301C>T	ENSP00000508262.1:n.2204-4301C>T
ENST00000684196.1:n.4543-4301C>T
ENST00000684325.1:c.2186-12111C>T	ENSP00000508121.1:n.2186-12111C>T
ENST00000684385.1:c.2221-4301C>T	ENSP00000507855.1:n.2221-4301C>T
ENST00000684497.1:c.2186-11141C>T	ENSP00000507057.1:n.2186-11141C>T
ENST00000382292.9:c.10091C>T MANE Select	ENSP00000371729.3:p.Ala3364Val
ENST00000423156.2:c.2186-4301C>T	ENSP00000390925.2:n.2186-4301C>T
ENST00000455470.6:c.2432-4301C>T	ENSP00000406565.2:n.2432-4301C>T
ENST00000382292.7:c.10091C>T	ENSP00000371729.3:p.Ala3364Val
ENST00000382298.7:c.10091C>T	ENSP00000371735.3:p.Ala3364Val
ENST00000402364.1:c.7841C>T	ENSP00000385844.1:p.Ala2614Val
ENST00000423156.1:c.1058-4301C>T	ENSP00000390925.1:n.1058-4301C>T
ENST00000455470.5:c.2130-4301C>T
NM_001278055.1:c.9650C>T	NP_001264984.1:p.Ala3217Val
NM_014363.5:c.10091C>T	NP_055178.3:p.Ala3364Val
XM_005266338.1:c.10118C>T	XP_005266395.1:p.Ala3373Val
XM_011535038.1:c.10142C>T	XP_011533340.1:p.Ala3381Val
XM_011535039.1:c.10109C>T	XP_011533341.1:p.Ala3370Val
XM_005266338.2:c.10118C>T	XP_005266395.1:p.Ala3373Val
XM_011535039.2:c.10109C>T	XP_011533341.1:p.Ala3370Val
XM_017020539.1:c.10082C>T	XP_016876028.1:p.Ala3361Val
XM_024449337.1:c.10118C>T	XP_024305105.1:p.Ala3373Val
NM_014363.6:c.10091C>T MANE Select	NP_055178.3:p.Ala3364Val
NM_001278055.2:c.9650C>T	NP_001264984.1:p.Ala3217Val