Canonical Allele Identifier: CA387506916

Gene: SACS

Linked Data

• gnomAD v4: 13-23331089-T-A
• MyVariant Identifiers: chr13:g.23905228T>A (hg19) ; chr13:g.23331089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331089T>A , CM000675.2:g.23331089T>A	GRCh38
NC_000013.10:g.23905228T>A , CM000675.1:g.23905228T>A	GRCh37
NC_000013.9:g.22803228T>A	NCBI36
NG_012342.1:g.107614A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18974A>T	ENSP00000508399.1:n.2186-18974A>T
ENST00000682944.1:c.12814A>T	ENSP00000507173.1:p.Thr4272Ser
ENST00000683210.1:c.2185+22696A>T	ENSP00000506739.1:n.2185+22696A>T
ENST00000683270.1:c.6446-1605A>T	ENSP00000507624.1:n.6446-1605A>T
ENST00000683367.1:c.2177-1605A>T	ENSP00000507780.1:n.2177-1605A>T
ENST00000683489.1:c.2292-1137A>T	ENSP00000508403.1:n.2292-1137A>T
ENST00000683680.1:c.2319-1137A>T	ENSP00000507223.1:n.2319-1137A>T
ENST00000684163.1:c.2204-1605A>T	ENSP00000508262.1:n.2204-1605A>T
ENST00000684196.1:n.4543-1605A>T
ENST00000684325.1:c.2186-9415A>T	ENSP00000508121.1:n.2186-9415A>T
ENST00000684385.1:c.2221-1605A>T	ENSP00000507855.1:n.2221-1605A>T
ENST00000684497.1:c.2186-8445A>T	ENSP00000507057.1:n.2186-8445A>T
ENST00000382292.9:c.12787A>T MANE Select	ENSP00000371729.3:p.Thr4263Ser
ENST00000423156.2:c.2186-1605A>T	ENSP00000390925.2:n.2186-1605A>T
ENST00000455470.6:c.2432-1605A>T	ENSP00000406565.2:n.2432-1605A>T
ENST00000382292.7:c.12787A>T	ENSP00000371729.3:p.Thr4263Ser
ENST00000382298.7:c.12787A>T	ENSP00000371735.3:p.Thr4263Ser
ENST00000402364.1:c.10537A>T	ENSP00000385844.1:p.Thr3513Ser
ENST00000423156.1:c.1058-1605A>T	ENSP00000390925.1:n.1058-1605A>T
ENST00000455470.5:c.2130-1605A>T
NM_001278055.1:c.12346A>T	NP_001264984.1:p.Thr4116Ser
NM_014363.5:c.12787A>T	NP_055178.3:p.Thr4263Ser
XM_005266338.1:c.12814A>T	XP_005266395.1:p.Thr4272Ser
XM_011535038.1:c.12838A>T	XP_011533340.1:p.Thr4280Ser
XM_011535039.1:c.12805A>T	XP_011533341.1:p.Thr4269Ser
XM_005266338.2:c.12814A>T	XP_005266395.1:p.Thr4272Ser
XM_011535039.2:c.12805A>T	XP_011533341.1:p.Thr4269Ser
XM_017020539.1:c.12778A>T	XP_016876028.1:p.Thr4260Ser
XM_024449337.1:c.12814A>T	XP_024305105.1:p.Thr4272Ser
NM_014363.6:c.12787A>T MANE Select	NP_055178.3:p.Thr4263Ser
NM_001278055.2:c.12346A>T	NP_001264984.1:p.Thr4116Ser