Canonical Allele Identifier: CA387512053

Gene: SACS

Linked Data

• dbSNP Id: rs771474242
• gnomAD v3: 13-23333366-A-T
• gnomAD v4: 13-23333366-A-T
• MyVariant Identifiers: chr13:g.23907505A>T (hg19) ; chr13:g.23333366A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333366A>T , CM000675.2:g.23333366A>T	GRCh38
NC_000013.10:g.23907505A>T , CM000675.1:g.23907505A>T	GRCh37
NC_000013.9:g.22805505A>T	NCBI36
NG_012342.1:g.105337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20419T>A	ENSP00000508399.1:n.2185+20419T>A
ENST00000682944.1:c.10537T>A	ENSP00000507173.1:p.Leu3513Ile
ENST00000683210.1:c.2185+20419T>A	ENSP00000506739.1:n.2185+20419T>A
ENST00000683270.1:c.6446-3882T>A	ENSP00000507624.1:n.6446-3882T>A
ENST00000683367.1:c.2177-3882T>A	ENSP00000507780.1:n.2177-3882T>A
ENST00000683489.1:c.2292-3414T>A	ENSP00000508403.1:n.2292-3414T>A
ENST00000683680.1:c.2319-3414T>A	ENSP00000507223.1:n.2319-3414T>A
ENST00000684163.1:c.2204-3882T>A	ENSP00000508262.1:n.2204-3882T>A
ENST00000684196.1:n.4543-3882T>A
ENST00000684325.1:c.2186-11692T>A	ENSP00000508121.1:n.2186-11692T>A
ENST00000684385.1:c.2221-3882T>A	ENSP00000507855.1:n.2221-3882T>A
ENST00000684497.1:c.2186-10722T>A	ENSP00000507057.1:n.2186-10722T>A
ENST00000382292.9:c.10510T>A MANE Select	ENSP00000371729.3:p.Leu3504Ile
ENST00000423156.2:c.2186-3882T>A	ENSP00000390925.2:n.2186-3882T>A
ENST00000455470.6:c.2432-3882T>A	ENSP00000406565.2:n.2432-3882T>A
ENST00000382292.7:c.10510T>A	ENSP00000371729.3:p.Leu3504Ile
ENST00000382298.7:c.10510T>A	ENSP00000371735.3:p.Leu3504Ile
ENST00000402364.1:c.8260T>A	ENSP00000385844.1:p.Leu2754Ile
ENST00000423156.1:c.1058-3882T>A	ENSP00000390925.1:n.1058-3882T>A
ENST00000455470.5:c.2130-3882T>A
NM_001278055.1:c.10069T>A	NP_001264984.1:p.Leu3357Ile
NM_014363.5:c.10510T>A	NP_055178.3:p.Leu3504Ile
XM_005266338.1:c.10537T>A	XP_005266395.1:p.Leu3513Ile
XM_011535038.1:c.10561T>A	XP_011533340.1:p.Leu3521Ile
XM_011535039.1:c.10528T>A	XP_011533341.1:p.Leu3510Ile
XM_005266338.2:c.10537T>A	XP_005266395.1:p.Leu3513Ile
XM_011535039.2:c.10528T>A	XP_011533341.1:p.Leu3510Ile
XM_017020539.1:c.10501T>A	XP_016876028.1:p.Leu3501Ile
XM_024449337.1:c.10537T>A	XP_024305105.1:p.Leu3513Ile
NM_014363.6:c.10510T>A MANE Select	NP_055178.3:p.Leu3504Ile
NM_001278055.2:c.10069T>A	NP_001264984.1:p.Leu3357Ile