Canonical Allele Identifier: CA246648548

Gene: SACS

Linked Data

• dbSNP Id: rs574823894
• gnomAD v4: 13-23331277-G-A
• MyVariant Identifiers: chr13:g.23905416G>A (hg19) ; chr13:g.23331277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331277G>A , CM000675.2:g.23331277G>A	GRCh38
NC_000013.10:g.23905416G>A , CM000675.1:g.23905416G>A	GRCh37
NC_000013.9:g.22803416G>A	NCBI36
NG_012342.1:g.107426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19162C>T	ENSP00000508399.1:n.2186-19162C>T
ENST00000682944.1:c.12626C>T	ENSP00000507173.1:p.Thr4209Ile
ENST00000683210.1:c.2185+22508C>T	ENSP00000506739.1:n.2185+22508C>T
ENST00000683270.1:c.6446-1793C>T	ENSP00000507624.1:n.6446-1793C>T
ENST00000683367.1:c.2177-1793C>T	ENSP00000507780.1:n.2177-1793C>T
ENST00000683489.1:c.2292-1325C>T	ENSP00000508403.1:n.2292-1325C>T
ENST00000683680.1:c.2319-1325C>T	ENSP00000507223.1:n.2319-1325C>T
ENST00000684163.1:c.2204-1793C>T	ENSP00000508262.1:n.2204-1793C>T
ENST00000684196.1:n.4543-1793C>T
ENST00000684325.1:c.2186-9603C>T	ENSP00000508121.1:n.2186-9603C>T
ENST00000684385.1:c.2221-1793C>T	ENSP00000507855.1:n.2221-1793C>T
ENST00000684497.1:c.2186-8633C>T	ENSP00000507057.1:n.2186-8633C>T
ENST00000382292.9:c.12599C>T MANE Select	ENSP00000371729.3:p.Thr4200Ile
ENST00000423156.2:c.2186-1793C>T	ENSP00000390925.2:n.2186-1793C>T
ENST00000455470.6:c.2432-1793C>T	ENSP00000406565.2:n.2432-1793C>T
ENST00000382292.7:c.12599C>T	ENSP00000371729.3:p.Thr4200Ile
ENST00000382298.7:c.12599C>T	ENSP00000371735.3:p.Thr4200Ile
ENST00000402364.1:c.10349C>T	ENSP00000385844.1:p.Thr3450Ile
ENST00000423156.1:c.1058-1793C>T	ENSP00000390925.1:n.1058-1793C>T
ENST00000455470.5:c.2130-1793C>T
NM_001278055.1:c.12158C>T	NP_001264984.1:p.Thr4053Ile
NM_014363.5:c.12599C>T	NP_055178.3:p.Thr4200Ile
XM_005266338.1:c.12626C>T	XP_005266395.1:p.Thr4209Ile
XM_011535038.1:c.12650C>T	XP_011533340.1:p.Thr4217Ile
XM_011535039.1:c.12617C>T	XP_011533341.1:p.Thr4206Ile
XM_005266338.2:c.12626C>T	XP_005266395.1:p.Thr4209Ile
XM_011535039.2:c.12617C>T	XP_011533341.1:p.Thr4206Ile
XM_017020539.1:c.12590C>T	XP_016876028.1:p.Thr4197Ile
XM_024449337.1:c.12626C>T	XP_024305105.1:p.Thr4209Ile
NM_014363.6:c.12599C>T MANE Select	NP_055178.3:p.Thr4200Ile
NM_001278055.2:c.12158C>T	NP_001264984.1:p.Thr4053Ile