Canonical Allele Identifier: CA387539085

Gene: SACS

Linked Data

• dbSNP Id: rs1473022548
• gnomAD v2: 13-23915602-T-C
• gnomAD v3: 13-23341463-T-C
• gnomAD v4: 13-23341463-T-C
• MyVariant Identifiers: chr13:g.23915602T>C (hg19) ; chr13:g.23341463T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341463T>C , CM000675.2:g.23341463T>C	GRCh38
NC_000013.10:g.23915602T>C , CM000675.1:g.23915602T>C	GRCh37
NC_000013.9:g.22813602T>C	NCBI36
NG_012342.1:g.97240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12322A>G	ENSP00000508399.1:n.2185+12322A>G
ENST00000682944.1:c.2440A>G	ENSP00000507173.1:p.Arg814Gly
ENST00000683210.1:c.2185+12322A>G	ENSP00000506739.1:n.2185+12322A>G
ENST00000683270.1:c.2404A>G	ENSP00000507624.1:p.Arg802Gly
ENST00000683367.1:c.2177-11979A>G	ENSP00000507780.1:n.2177-11979A>G
ENST00000683489.1:c.2291+122A>G	ENSP00000508403.1:n.2291+122A>G
ENST00000683680.1:c.2318+122A>G	ENSP00000507223.1:n.2318+122A>G
ENST00000684163.1:c.2203+5348A>G	ENSP00000508262.1:n.2203+5348A>G
ENST00000684196.1:n.4543-11979A>G
ENST00000684325.1:c.2185+12322A>G	ENSP00000508121.1:n.2185+12322A>G
ENST00000684385.1:c.2220+5348A>G	ENSP00000507855.1:n.2220+5348A>G
ENST00000684497.1:c.2185+12322A>G	ENSP00000507057.1:n.2185+12322A>G
ENST00000382292.9:c.2413A>G MANE Select	ENSP00000371729.3:p.Arg805Gly
ENST00000423156.2:c.2186-11979A>G	ENSP00000390925.2:n.2186-11979A>G
ENST00000455470.6:c.2413A>G	ENSP00000406565.2:p.Arg805Gly
ENST00000382292.7:c.2413A>G	ENSP00000371729.3:p.Arg805Gly
ENST00000382298.7:c.2413A>G	ENSP00000371735.3:p.Arg805Gly
ENST00000402364.1:c.163A>G	ENSP00000385844.1:p.Arg55Gly
ENST00000423156.1:c.1058-11979A>G	ENSP00000390925.1:n.1058-11979A>G
ENST00000455470.5:c.2111A>G
NM_001278055.1:c.1972A>G	NP_001264984.1:p.Arg658Gly
NM_014363.5:c.2413A>G	NP_055178.3:p.Arg805Gly
XM_005266338.1:c.2440A>G	XP_005266395.1:p.Arg814Gly
XM_011535038.1:c.2464A>G	XP_011533340.1:p.Arg822Gly
XM_011535039.1:c.2431A>G	XP_011533341.1:p.Arg811Gly
XM_005266338.2:c.2440A>G	XP_005266395.1:p.Arg814Gly
XM_011535039.2:c.2431A>G	XP_011533341.1:p.Arg811Gly
XM_017020539.1:c.2404A>G	XP_016876028.1:p.Arg802Gly
XM_024449337.1:c.2440A>G	XP_024305105.1:p.Arg814Gly
NM_014363.6:c.2413A>G MANE Select	NP_055178.3:p.Arg805Gly
NM_001278055.2:c.1972A>G	NP_001264984.1:p.Arg658Gly