Canonical Allele Identifier: CA6910722

Gene: SACS

Linked Data

• dbSNP Id: rs775363461
• ExAC: 13:23909246 A / C
• gnomAD v2: 13-23909246-A-C
• gnomAD v4: 13-23335107-A-C
• MyVariant Identifiers: chr13:g.23909246A>C (hg19) ; chr13:g.23335107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335107A>C , CM000675.2:g.23335107A>C	GRCh38
NC_000013.10:g.23909246A>C , CM000675.1:g.23909246A>C	GRCh37
NC_000013.9:g.22807246A>C	NCBI36
NG_012342.1:g.103596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18678T>G	ENSP00000508399.1:n.2185+18678T>G
ENST00000682944.1:c.8796T>G	ENSP00000507173.1:p.Val2932=
ENST00000683210.1:c.2185+18678T>G	ENSP00000506739.1:n.2185+18678T>G
ENST00000683270.1:c.6445+2315T>G	ENSP00000507624.1:n.6445+2315T>G
ENST00000683367.1:c.2177-5623T>G	ENSP00000507780.1:n.2177-5623T>G
ENST00000683489.1:c.2292-5155T>G	ENSP00000508403.1:n.2292-5155T>G
ENST00000683680.1:c.2319-5155T>G	ENSP00000507223.1:n.2319-5155T>G
ENST00000684163.1:c.2204-5623T>G	ENSP00000508262.1:n.2204-5623T>G
ENST00000684196.1:n.4543-5623T>G
ENST00000684325.1:c.2186-13433T>G	ENSP00000508121.1:n.2186-13433T>G
ENST00000684385.1:c.2221-5623T>G	ENSP00000507855.1:n.2221-5623T>G
ENST00000684497.1:c.2186-12463T>G	ENSP00000507057.1:n.2186-12463T>G
ENST00000382292.9:c.8769T>G MANE Select	ENSP00000371729.3:p.Val2923=
ENST00000423156.2:c.2186-5623T>G	ENSP00000390925.2:n.2186-5623T>G
ENST00000455470.6:c.2432-5623T>G	ENSP00000406565.2:n.2432-5623T>G
ENST00000382292.7:c.8769T>G	ENSP00000371729.3:p.Val2923=
ENST00000382298.7:c.8769T>G	ENSP00000371735.3:p.Val2923=
ENST00000402364.1:c.6519T>G	ENSP00000385844.1:p.Val2173=
ENST00000423156.1:c.1058-5623T>G	ENSP00000390925.1:n.1058-5623T>G
ENST00000455470.5:c.2130-5623T>G
NM_001278055.1:c.8328T>G	NP_001264984.1:p.Val2776=
NM_014363.5:c.8769T>G	NP_055178.3:p.Val2923=
XM_005266338.1:c.8796T>G	XP_005266395.1:p.Val2932=
XM_011535038.1:c.8820T>G	XP_011533340.1:p.Val2940=
XM_011535039.1:c.8787T>G	XP_011533341.1:p.Val2929=
XM_005266338.2:c.8796T>G	XP_005266395.1:p.Val2932=
XM_011535039.2:c.8787T>G	XP_011533341.1:p.Val2929=
XM_017020539.1:c.8760T>G	XP_016876028.1:p.Val2920=
XM_024449337.1:c.8796T>G	XP_024305105.1:p.Val2932=
NM_014363.6:c.8769T>G MANE Select	NP_055178.3:p.Val2923=
NM_001278055.2:c.8328T>G	NP_001264984.1:p.Val2776=