Canonical Allele Identifier: CA387505961

Gene: SACS

Linked Data

• gnomAD v4: 13-23330761-G-A
• MyVariant Identifiers: chr13:g.23904900G>A (hg19) ; chr13:g.23330761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330761G>A , CM000675.2:g.23330761G>A	GRCh38
NC_000013.10:g.23904900G>A , CM000675.1:g.23904900G>A	GRCh37
NC_000013.9:g.22802900G>A	NCBI36
NG_012342.1:g.107942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18646C>T	ENSP00000508399.1:n.2186-18646C>T
ENST00000682944.1:c.13142C>T	ENSP00000507173.1:p.Ala4381Val
ENST00000683210.1:c.2185+23024C>T	ENSP00000506739.1:n.2185+23024C>T
ENST00000683270.1:c.6446-1277C>T	ENSP00000507624.1:n.6446-1277C>T
ENST00000683367.1:c.2177-1277C>T	ENSP00000507780.1:n.2177-1277C>T
ENST00000683489.1:c.2292-809C>T	ENSP00000508403.1:n.2292-809C>T
ENST00000683680.1:c.2319-809C>T	ENSP00000507223.1:n.2319-809C>T
ENST00000684163.1:c.2204-1277C>T	ENSP00000508262.1:n.2204-1277C>T
ENST00000684196.1:n.4543-1277C>T
ENST00000684325.1:c.2186-9087C>T	ENSP00000508121.1:n.2186-9087C>T
ENST00000684385.1:c.2221-1277C>T	ENSP00000507855.1:n.2221-1277C>T
ENST00000684497.1:c.2186-8117C>T	ENSP00000507057.1:n.2186-8117C>T
ENST00000382292.9:c.13115C>T MANE Select	ENSP00000371729.3:p.Ala4372Val
ENST00000423156.2:c.2186-1277C>T	ENSP00000390925.2:n.2186-1277C>T
ENST00000455470.6:c.2432-1277C>T	ENSP00000406565.2:n.2432-1277C>T
ENST00000382292.7:c.13115C>T	ENSP00000371729.3:p.Ala4372Val
ENST00000382298.7:c.13115C>T	ENSP00000371735.3:p.Ala4372Val
ENST00000402364.1:c.10865C>T	ENSP00000385844.1:p.Ala3622Val
ENST00000423156.1:c.1058-1277C>T	ENSP00000390925.1:n.1058-1277C>T
ENST00000455470.5:c.2130-1277C>T
NM_001278055.1:c.12674C>T	NP_001264984.1:p.Ala4225Val
NM_014363.5:c.13115C>T	NP_055178.3:p.Ala4372Val
XM_005266338.1:c.13142C>T	XP_005266395.1:p.Ala4381Val
XM_011535038.1:c.13166C>T	XP_011533340.1:p.Ala4389Val
XM_011535039.1:c.13133C>T	XP_011533341.1:p.Ala4378Val
XM_005266338.2:c.13142C>T	XP_005266395.1:p.Ala4381Val
XM_011535039.2:c.13133C>T	XP_011533341.1:p.Ala4378Val
XM_017020539.1:c.13106C>T	XP_016876028.1:p.Ala4369Val
XM_024449337.1:c.13142C>T	XP_024305105.1:p.Ala4381Val
NM_014363.6:c.13115C>T MANE Select	NP_055178.3:p.Ala4372Val
NM_001278055.2:c.12674C>T	NP_001264984.1:p.Ala4225Val