Canonical Allele Identifier: CA387520837

Gene: SACS

Linked Data

• ClinVar Variation Id: 1209702
• ClinVar RCV Id: RCV001578935
• dbSNP Id: rs1190128123
• gnomAD v4: 13-23337136-G-C
• MyVariant Identifiers: chr13:g.23911275G>C (hg19) ; chr13:g.23337136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337136G>C , CM000675.2:g.23337136G>C	GRCh38
NC_000013.10:g.23911275G>C , CM000675.1:g.23911275G>C	GRCh37
NC_000013.9:g.22809275G>C	NCBI36
NG_012342.1:g.101567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16649C>G	ENSP00000508399.1:n.2185+16649C>G
ENST00000682944.1:c.6767C>G	ENSP00000507173.1:p.Thr2256Arg
ENST00000683210.1:c.2185+16649C>G	ENSP00000506739.1:n.2185+16649C>G
ENST00000683270.1:c.6445+286C>G	ENSP00000507624.1:n.6445+286C>G
ENST00000683367.1:c.2177-7652C>G	ENSP00000507780.1:n.2177-7652C>G
ENST00000683489.1:c.2291+4449C>G	ENSP00000508403.1:n.2291+4449C>G
ENST00000683680.1:c.2318+4449C>G	ENSP00000507223.1:n.2318+4449C>G
ENST00000684163.1:c.2204-7652C>G	ENSP00000508262.1:n.2204-7652C>G
ENST00000684196.1:n.4543-7652C>G
ENST00000684325.1:c.2186-15462C>G	ENSP00000508121.1:n.2186-15462C>G
ENST00000684385.1:c.2221-7652C>G	ENSP00000507855.1:n.2221-7652C>G
ENST00000684497.1:c.2186-14492C>G	ENSP00000507057.1:n.2186-14492C>G
ENST00000382292.9:c.6740C>G MANE Select	ENSP00000371729.3:p.Thr2247Arg
ENST00000423156.2:c.2186-7652C>G	ENSP00000390925.2:n.2186-7652C>G
ENST00000455470.6:c.2431+4309C>G	ENSP00000406565.2:n.2431+4309C>G
ENST00000382292.7:c.6740C>G	ENSP00000371729.3:p.Thr2247Arg
ENST00000382298.7:c.6740C>G	ENSP00000371735.3:p.Thr2247Arg
ENST00000402364.1:c.4490C>G	ENSP00000385844.1:p.Thr1497Arg
ENST00000423156.1:c.1058-7652C>G	ENSP00000390925.1:n.1058-7652C>G
ENST00000455470.5:c.2129+4309C>G
NM_001278055.1:c.6299C>G	NP_001264984.1:p.Thr2100Arg
NM_014363.5:c.6740C>G	NP_055178.3:p.Thr2247Arg
XM_005266338.1:c.6767C>G	XP_005266395.1:p.Thr2256Arg
XM_011535038.1:c.6791C>G	XP_011533340.1:p.Thr2264Arg
XM_011535039.1:c.6758C>G	XP_011533341.1:p.Thr2253Arg
XM_005266338.2:c.6767C>G	XP_005266395.1:p.Thr2256Arg
XM_011535039.2:c.6758C>G	XP_011533341.1:p.Thr2253Arg
XM_017020539.1:c.6731C>G	XP_016876028.1:p.Thr2244Arg
XM_024449337.1:c.6767C>G	XP_024305105.1:p.Thr2256Arg
NM_014363.6:c.6740C>G MANE Select	NP_055178.3:p.Thr2247Arg
NM_001278055.2:c.6299C>G	NP_001264984.1:p.Thr2100Arg