Canonical Allele Identifier: CA2622330549

Gene: SACS

Linked Data

• gnomAD v4: 13-23375080-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375080G>T , CM000675.2:g.23375080G>T	GRCh38
NC_000013.10:g.23949219G>T , CM000675.1:g.23949219G>T	GRCh37
NC_000013.9:g.22847219G>T	NCBI36
NG_012342.1:g.63623C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.744+39C>A
ENST00000682547.1:c.208+39C>A	ENSP00000507735.1:n.208+39C>A
ENST00000682775.1:c.171+39C>A	ENSP00000508399.1:n.171+39C>A
ENST00000682944.1:c.171+39C>A	ENSP00000507173.1:n.171+39C>A
ENST00000683154.1:n.309+39C>A
ENST00000683210.1:c.171+39C>A	ENSP00000506739.1:n.171+39C>A
ENST00000683270.1:c.162+39C>A	ENSP00000507624.1:n.162+39C>A
ENST00000683367.1:c.162+39C>A	ENSP00000507780.1:n.162+39C>A
ENST00000683489.1:c.171+39C>A	ENSP00000508403.1:n.171+39C>A
ENST00000683680.1:c.171+39C>A	ENSP00000507223.1:n.171+39C>A
ENST00000684053.1:n.288+39C>A
ENST00000684163.1:c.162+39C>A	ENSP00000508262.1:n.162+39C>A
ENST00000684325.1:c.171+39C>A	ENSP00000508121.1:n.171+39C>A
ENST00000684385.1:c.171+39C>A	ENSP00000507855.1:n.171+39C>A
ENST00000684497.1:c.171+39C>A	ENSP00000507057.1:n.171+39C>A
ENST00000382292.9:c.171+39C>A MANE Select	ENSP00000371729.3:n.171+39C>A
ENST00000423156.2:c.171+39C>A	ENSP00000390925.2:n.171+39C>A
ENST00000455470.6:c.171+39C>A	ENSP00000406565.2:n.171+39C>A
ENST00000382292.7:c.171+39C>A	ENSP00000371729.3:n.171+39C>A
ENST00000382298.7:c.171+39C>A	ENSP00000371735.3:n.171+39C>A
ENST00000402364.1:c.-1992+39C>A	ENSP00000385844.1:n.-1992+39C>A
NM_001278055.1:c.-183+39C>A	NP_001264984.1:n.-183+39C>A
NM_014363.5:c.171+39C>A	NP_055178.3:n.171+39C>A
XM_005266338.1:c.171+39C>A	XP_005266395.1:n.171+39C>A
XM_011535038.1:c.195+39C>A	XP_011533340.1:n.195+39C>A
XM_011535039.1:c.162+39C>A	XP_011533341.1:n.162+39C>A
XM_005266338.2:c.171+39C>A	XP_005266395.1:n.171+39C>A
XM_011535039.2:c.162+39C>A	XP_011533341.1:n.162+39C>A
XM_017020539.1:c.162+39C>A	XP_016876028.1:n.162+39C>A
XM_024449337.1:c.171+39C>A	XP_024305105.1:n.171+39C>A
NM_014363.6:c.171+39C>A MANE Select	NP_055178.3:n.171+39C>A
NM_001278055.2:c.-183+39C>A	NP_001264984.1:n.-183+39C>A