Canonical Allele Identifier: CA2622329552

Gene: SACS

Linked Data

• ClinVar Variation Id: 2873715
• ClinVar RCV Id: RCV003750333
• gnomAD v4: 13-23368382-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23368382G>C , CM000675.2:g.23368382G>C	GRCh38
NC_000013.10:g.23942521G>C , CM000675.1:g.23942521G>C	GRCh37
NC_000013.9:g.22840521G>C	NCBI36
NG_012342.1:g.70321C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682244.1:n.918+20C>G
ENST00000682354.1:n.1110+20C>G
ENST00000682775.1:c.345+20C>G	ENSP00000508399.1:n.345+20C>G
ENST00000682944.1:c.345+20C>G	ENSP00000507173.1:n.345+20C>G
ENST00000683154.1:n.483+20C>G
ENST00000683210.1:c.345+20C>G	ENSP00000506739.1:n.345+20C>G
ENST00000683270.1:c.336+20C>G	ENSP00000507624.1:n.336+20C>G
ENST00000683367.1:c.336+20C>G	ENSP00000507780.1:n.336+20C>G
ENST00000683489.1:c.345+20C>G	ENSP00000508403.1:n.345+20C>G
ENST00000683680.1:c.345+20C>G	ENSP00000507223.1:n.345+20C>G
ENST00000684053.1:n.462+20C>G
ENST00000684163.1:c.336+20C>G	ENSP00000508262.1:n.336+20C>G
ENST00000684196.1:n.2702+20C>G
ENST00000684325.1:c.345+20C>G	ENSP00000508121.1:n.345+20C>G
ENST00000684385.1:c.345+20C>G	ENSP00000507855.1:n.345+20C>G
ENST00000684497.1:c.345+20C>G	ENSP00000507057.1:n.345+20C>G
ENST00000382292.9:c.345+20C>G MANE Select	ENSP00000371729.3:n.345+20C>G
ENST00000423156.2:c.345+20C>G	ENSP00000390925.2:n.345+20C>G
ENST00000455470.6:c.345+20C>G	ENSP00000406565.2:n.345+20C>G
ENST00000382292.7:c.345+20C>G	ENSP00000371729.3:n.345+20C>G
ENST00000382298.7:c.345+20C>G	ENSP00000371735.3:n.345+20C>G
ENST00000402364.1:c.-1906+20C>G	ENSP00000385844.1:n.-1906+20C>G
ENST00000455470.5:c.43+20C>G
NM_001278055.1:c.-97+20C>G	NP_001264984.1:n.-97+20C>G
NM_014363.5:c.345+20C>G	NP_055178.3:n.345+20C>G
XM_005266338.1:c.345+20C>G	XP_005266395.1:n.345+20C>G
XM_011535038.1:c.369+20C>G	XP_011533340.1:n.369+20C>G
XM_011535039.1:c.336+20C>G	XP_011533341.1:n.336+20C>G
XM_005266338.2:c.345+20C>G	XP_005266395.1:n.345+20C>G
XM_011535039.2:c.336+20C>G	XP_011533341.1:n.336+20C>G
XM_017020539.1:c.336+20C>G	XP_016876028.1:n.336+20C>G
XM_024449337.1:c.345+20C>G	XP_024305105.1:n.345+20C>G
NM_014363.6:c.345+20C>G MANE Select	NP_055178.3:n.345+20C>G
NM_001278055.2:c.-97+20C>G	NP_001264984.1:n.-97+20C>G