Canonical Allele Identifier: CA387518666

Gene: SACS

Linked Data

• gnomAD v4: 13-23336273-T-C
• MyVariant Identifiers: chr13:g.23910412T>C (hg19) ; chr13:g.23336273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336273T>C , CM000675.2:g.23336273T>C	GRCh38
NC_000013.10:g.23910412T>C , CM000675.1:g.23910412T>C	GRCh37
NC_000013.9:g.22808412T>C	NCBI36
NG_012342.1:g.102430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17512A>G	ENSP00000508399.1:n.2185+17512A>G
ENST00000682944.1:c.7630A>G	ENSP00000507173.1:p.Ile2544Val
ENST00000683210.1:c.2185+17512A>G	ENSP00000506739.1:n.2185+17512A>G
ENST00000683270.1:c.6445+1149A>G	ENSP00000507624.1:n.6445+1149A>G
ENST00000683367.1:c.2177-6789A>G	ENSP00000507780.1:n.2177-6789A>G
ENST00000683489.1:c.2291+5312A>G	ENSP00000508403.1:n.2291+5312A>G
ENST00000683680.1:c.2318+5312A>G	ENSP00000507223.1:n.2318+5312A>G
ENST00000684163.1:c.2204-6789A>G	ENSP00000508262.1:n.2204-6789A>G
ENST00000684196.1:n.4543-6789A>G
ENST00000684325.1:c.2186-14599A>G	ENSP00000508121.1:n.2186-14599A>G
ENST00000684385.1:c.2221-6789A>G	ENSP00000507855.1:n.2221-6789A>G
ENST00000684497.1:c.2186-13629A>G	ENSP00000507057.1:n.2186-13629A>G
ENST00000382292.9:c.7603A>G MANE Select	ENSP00000371729.3:p.Ile2535Val
ENST00000423156.2:c.2186-6789A>G	ENSP00000390925.2:n.2186-6789A>G
ENST00000455470.6:c.2431+5172A>G	ENSP00000406565.2:n.2431+5172A>G
ENST00000382292.7:c.7603A>G	ENSP00000371729.3:p.Ile2535Val
ENST00000382298.7:c.7603A>G	ENSP00000371735.3:p.Ile2535Val
ENST00000402364.1:c.5353A>G	ENSP00000385844.1:p.Ile1785Val
ENST00000423156.1:c.1058-6789A>G	ENSP00000390925.1:n.1058-6789A>G
ENST00000455470.5:c.2129+5172A>G
NM_001278055.1:c.7162A>G	NP_001264984.1:p.Ile2388Val
NM_014363.5:c.7603A>G	NP_055178.3:p.Ile2535Val
XM_005266338.1:c.7630A>G	XP_005266395.1:p.Ile2544Val
XM_011535038.1:c.7654A>G	XP_011533340.1:p.Ile2552Val
XM_011535039.1:c.7621A>G	XP_011533341.1:p.Ile2541Val
XM_005266338.2:c.7630A>G	XP_005266395.1:p.Ile2544Val
XM_011535039.2:c.7621A>G	XP_011533341.1:p.Ile2541Val
XM_017020539.1:c.7594A>G	XP_016876028.1:p.Ile2532Val
XM_024449337.1:c.7630A>G	XP_024305105.1:p.Ile2544Val
NM_014363.6:c.7603A>G MANE Select	NP_055178.3:p.Ile2535Val
NM_001278055.2:c.7162A>G	NP_001264984.1:p.Ile2388Val