Canonical Allele Identifier: CA387516022

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909299G>C (hg19) ; chr13:g.23335160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335160G>C , CM000675.2:g.23335160G>C	GRCh38
NC_000013.10:g.23909299G>C , CM000675.1:g.23909299G>C	GRCh37
NC_000013.9:g.22807299G>C	NCBI36
NG_012342.1:g.103543C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+18625C>G	ENSP00000508399.1:n.2185+18625C>G
ENST00000682944.1:c.8743C>G	ENSP00000507173.1:p.Arg2915Gly
ENST00000683210.1:c.2185+18625C>G	ENSP00000506739.1:n.2185+18625C>G
ENST00000683270.1:c.6445+2262C>G	ENSP00000507624.1:n.6445+2262C>G
ENST00000683367.1:c.2177-5676C>G	ENSP00000507780.1:n.2177-5676C>G
ENST00000683489.1:c.2292-5208C>G	ENSP00000508403.1:n.2292-5208C>G
ENST00000683680.1:c.2319-5208C>G	ENSP00000507223.1:n.2319-5208C>G
ENST00000684163.1:c.2204-5676C>G	ENSP00000508262.1:n.2204-5676C>G
ENST00000684196.1:n.4543-5676C>G
ENST00000684325.1:c.2186-13486C>G	ENSP00000508121.1:n.2186-13486C>G
ENST00000684385.1:c.2221-5676C>G	ENSP00000507855.1:n.2221-5676C>G
ENST00000684497.1:c.2186-12516C>G	ENSP00000507057.1:n.2186-12516C>G
ENST00000382292.9:c.8716C>G MANE Select	ENSP00000371729.3:p.Arg2906Gly
ENST00000423156.2:c.2186-5676C>G	ENSP00000390925.2:n.2186-5676C>G
ENST00000455470.6:c.2432-5676C>G	ENSP00000406565.2:n.2432-5676C>G
ENST00000382292.7:c.8716C>G	ENSP00000371729.3:p.Arg2906Gly
ENST00000382298.7:c.8716C>G	ENSP00000371735.3:p.Arg2906Gly
ENST00000402364.1:c.6466C>G	ENSP00000385844.1:p.Arg2156Gly
ENST00000423156.1:c.1058-5676C>G	ENSP00000390925.1:n.1058-5676C>G
ENST00000455470.5:c.2130-5676C>G
NM_001278055.1:c.8275C>G	NP_001264984.1:p.Arg2759Gly
NM_014363.5:c.8716C>G	NP_055178.3:p.Arg2906Gly
XM_005266338.1:c.8743C>G	XP_005266395.1:p.Arg2915Gly
XM_011535038.1:c.8767C>G	XP_011533340.1:p.Arg2923Gly
XM_011535039.1:c.8734C>G	XP_011533341.1:p.Arg2912Gly
XM_005266338.2:c.8743C>G	XP_005266395.1:p.Arg2915Gly
XM_011535039.2:c.8734C>G	XP_011533341.1:p.Arg2912Gly
XM_017020539.1:c.8707C>G	XP_016876028.1:p.Arg2903Gly
XM_024449337.1:c.8743C>G	XP_024305105.1:p.Arg2915Gly
NM_014363.6:c.8716C>G MANE Select	NP_055178.3:p.Arg2906Gly
NM_001278055.2:c.8275C>G	NP_001264984.1:p.Arg2759Gly