Canonical Allele Identifier: CA387504688

Gene: SACS

Linked Data

• gnomAD v4: 13-23330185-G-A
• MyVariant Identifiers: chr13:g.23904324G>A (hg19) ; chr13:g.23330185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330185G>A , CM000675.2:g.23330185G>A	GRCh38
NC_000013.10:g.23904324G>A , CM000675.1:g.23904324G>A	GRCh37
NC_000013.9:g.22802324G>A	NCBI36
NG_012342.1:g.108518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18070C>T	ENSP00000508399.1:n.2186-18070C>T
ENST00000682944.1:c.13718C>T	ENSP00000507173.1:p.Thr4573Ile
ENST00000683210.1:c.2185+23600C>T	ENSP00000506739.1:n.2185+23600C>T
ENST00000683270.1:c.6446-701C>T	ENSP00000507624.1:n.6446-701C>T
ENST00000683367.1:c.2177-701C>T	ENSP00000507780.1:n.2177-701C>T
ENST00000683489.1:c.2292-233C>T	ENSP00000508403.1:n.2292-233C>T
ENST00000683680.1:c.2319-233C>T	ENSP00000507223.1:n.2319-233C>T
ENST00000684163.1:c.2204-701C>T	ENSP00000508262.1:n.2204-701C>T
ENST00000684196.1:n.4543-701C>T
ENST00000684325.1:c.2186-8511C>T	ENSP00000508121.1:n.2186-8511C>T
ENST00000684385.1:c.2221-701C>T	ENSP00000507855.1:n.2221-701C>T
ENST00000684497.1:c.2186-7541C>T	ENSP00000507057.1:n.2186-7541C>T
ENST00000382292.9:c.13691C>T MANE Select	ENSP00000371729.3:p.Thr4564Ile
ENST00000423156.2:c.2186-701C>T	ENSP00000390925.2:n.2186-701C>T
ENST00000455470.6:c.2432-701C>T	ENSP00000406565.2:n.2432-701C>T
ENST00000382292.7:c.13691C>T	ENSP00000371729.3:p.Thr4564Ile
ENST00000382298.7:c.13691C>T	ENSP00000371735.3:p.Thr4564Ile
ENST00000402364.1:c.11441C>T	ENSP00000385844.1:p.Thr3814Ile
ENST00000423156.1:c.1058-701C>T	ENSP00000390925.1:n.1058-701C>T
ENST00000455470.5:c.2130-701C>T
NM_001278055.1:c.13250C>T	NP_001264984.1:p.Thr4417Ile
NM_014363.5:c.13691C>T	NP_055178.3:p.Thr4564Ile
XM_005266338.1:c.13718C>T	XP_005266395.1:p.Thr4573Ile
XM_011535038.1:c.13742C>T	XP_011533340.1:p.Thr4581Ile
XM_011535039.1:c.13709C>T	XP_011533341.1:p.Thr4570Ile
XM_005266338.2:c.13718C>T	XP_005266395.1:p.Thr4573Ile
XM_011535039.2:c.13709C>T	XP_011533341.1:p.Thr4570Ile
XM_017020539.1:c.13682C>T	XP_016876028.1:p.Thr4561Ile
XM_024449337.1:c.13718C>T	XP_024305105.1:p.Thr4573Ile
NM_014363.6:c.13691C>T MANE Select	NP_055178.3:p.Thr4564Ile
NM_001278055.2:c.13250C>T	NP_001264984.1:p.Thr4417Ile