Canonical Allele Identifier: CA387540598

Gene: SACS

Linked Data

• gnomAD v4: 13-23341669-T-C
• MyVariant Identifiers: chr13:g.23915808T>C (hg19) ; chr13:g.23341669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341669T>C , CM000675.2:g.23341669T>C	GRCh38
NC_000013.10:g.23915808T>C , CM000675.1:g.23915808T>C	GRCh37
NC_000013.9:g.22813808T>C	NCBI36
NG_012342.1:g.97034A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12116A>G	ENSP00000508399.1:n.2185+12116A>G
ENST00000682944.1:c.2234A>G	ENSP00000507173.1:p.Gln745Arg
ENST00000683210.1:c.2185+12116A>G	ENSP00000506739.1:n.2185+12116A>G
ENST00000683270.1:c.2198A>G	ENSP00000507624.1:p.Gln733Arg
ENST00000683367.1:c.2176+12116A>G	ENSP00000507780.1:n.2176+12116A>G
ENST00000683489.1:c.2207A>G	ENSP00000508403.1:p.Gln736Arg
ENST00000683680.1:c.2234A>G	ENSP00000507223.1:p.Gln745Arg
ENST00000684163.1:c.2203+5142A>G	ENSP00000508262.1:n.2203+5142A>G
ENST00000684196.1:n.4542+12116A>G
ENST00000684325.1:c.2185+12116A>G	ENSP00000508121.1:n.2185+12116A>G
ENST00000684385.1:c.2220+5142A>G	ENSP00000507855.1:n.2220+5142A>G
ENST00000684497.1:c.2185+12116A>G	ENSP00000507057.1:n.2185+12116A>G
ENST00000382292.9:c.2207A>G MANE Select	ENSP00000371729.3:p.Gln736Arg
ENST00000423156.2:c.2185+12116A>G	ENSP00000390925.2:n.2185+12116A>G
ENST00000455470.6:c.2207A>G	ENSP00000406565.2:p.Gln736Arg
ENST00000382292.7:c.2207A>G	ENSP00000371729.3:p.Gln736Arg
ENST00000382298.7:c.2207A>G	ENSP00000371735.3:p.Gln736Arg
ENST00000402364.1:c.-44A>G	ENSP00000385844.1:n.-44A>G
ENST00000423156.1:c.1057+12116A>G	ENSP00000390925.1:n.1057+12116A>G
ENST00000455470.5:c.1905A>G
NM_001278055.1:c.1766A>G	NP_001264984.1:p.Gln589Arg
NM_014363.5:c.2207A>G	NP_055178.3:p.Gln736Arg
XM_005266338.1:c.2234A>G	XP_005266395.1:p.Gln745Arg
XM_011535038.1:c.2258A>G	XP_011533340.1:p.Gln753Arg
XM_011535039.1:c.2225A>G	XP_011533341.1:p.Gln742Arg
XM_005266338.2:c.2234A>G	XP_005266395.1:p.Gln745Arg
XM_011535039.2:c.2225A>G	XP_011533341.1:p.Gln742Arg
XM_017020539.1:c.2198A>G	XP_016876028.1:p.Gln733Arg
XM_024449337.1:c.2234A>G	XP_024305105.1:p.Gln745Arg
NM_014363.6:c.2207A>G MANE Select	NP_055178.3:p.Gln736Arg
NM_001278055.2:c.1766A>G	NP_001264984.1:p.Gln589Arg