Canonical Allele Identifier: CA387504937

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904433C>A (hg19) ; chr13:g.23330294C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330294C>A , CM000675.2:g.23330294C>A	GRCh38
NC_000013.10:g.23904433C>A , CM000675.1:g.23904433C>A	GRCh37
NC_000013.9:g.22802433C>A	NCBI36
NG_012342.1:g.108409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18179G>T	ENSP00000508399.1:n.2186-18179G>T
ENST00000682944.1:c.13609G>T	ENSP00000507173.1:p.Ala4537Ser
ENST00000683210.1:c.2185+23491G>T	ENSP00000506739.1:n.2185+23491G>T
ENST00000683270.1:c.6446-810G>T	ENSP00000507624.1:n.6446-810G>T
ENST00000683367.1:c.2177-810G>T	ENSP00000507780.1:n.2177-810G>T
ENST00000683489.1:c.2292-342G>T	ENSP00000508403.1:n.2292-342G>T
ENST00000683680.1:c.2319-342G>T	ENSP00000507223.1:n.2319-342G>T
ENST00000684163.1:c.2204-810G>T	ENSP00000508262.1:n.2204-810G>T
ENST00000684196.1:n.4543-810G>T
ENST00000684325.1:c.2186-8620G>T	ENSP00000508121.1:n.2186-8620G>T
ENST00000684385.1:c.2221-810G>T	ENSP00000507855.1:n.2221-810G>T
ENST00000684497.1:c.2186-7650G>T	ENSP00000507057.1:n.2186-7650G>T
ENST00000382292.9:c.13582G>T MANE Select	ENSP00000371729.3:p.Ala4528Ser
ENST00000423156.2:c.2186-810G>T	ENSP00000390925.2:n.2186-810G>T
ENST00000455470.6:c.2432-810G>T	ENSP00000406565.2:n.2432-810G>T
ENST00000382292.7:c.13582G>T	ENSP00000371729.3:p.Ala4528Ser
ENST00000382298.7:c.13582G>T	ENSP00000371735.3:p.Ala4528Ser
ENST00000402364.1:c.11332G>T	ENSP00000385844.1:p.Ala3778Ser
ENST00000423156.1:c.1058-810G>T	ENSP00000390925.1:n.1058-810G>T
ENST00000455470.5:c.2130-810G>T
NM_001278055.1:c.13141G>T	NP_001264984.1:p.Ala4381Ser
NM_014363.5:c.13582G>T	NP_055178.3:p.Ala4528Ser
XM_005266338.1:c.13609G>T	XP_005266395.1:p.Ala4537Ser
XM_011535038.1:c.13633G>T	XP_011533340.1:p.Ala4545Ser
XM_011535039.1:c.13600G>T	XP_011533341.1:p.Ala4534Ser
XM_005266338.2:c.13609G>T	XP_005266395.1:p.Ala4537Ser
XM_011535039.2:c.13600G>T	XP_011533341.1:p.Ala4534Ser
XM_017020539.1:c.13573G>T	XP_016876028.1:p.Ala4525Ser
XM_024449337.1:c.13609G>T	XP_024305105.1:p.Ala4537Ser
NM_014363.6:c.13582G>T MANE Select	NP_055178.3:p.Ala4528Ser
NM_001278055.2:c.13141G>T	NP_001264984.1:p.Ala4381Ser