Canonical Allele Identifier: CA387504640

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904301C>G (hg19) ; chr13:g.23330162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330162C>G , CM000675.2:g.23330162C>G	GRCh38
NC_000013.10:g.23904301C>G , CM000675.1:g.23904301C>G	GRCh37
NC_000013.9:g.22802301C>G	NCBI36
NG_012342.1:g.108541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18047G>C	ENSP00000508399.1:n.2186-18047G>C
ENST00000682944.1:c.13741G>C	ENSP00000507173.1:p.Glu4581Gln
ENST00000683210.1:c.2185+23623G>C	ENSP00000506739.1:n.2185+23623G>C
ENST00000683270.1:c.6446-678G>C	ENSP00000507624.1:n.6446-678G>C
ENST00000683367.1:c.2177-678G>C	ENSP00000507780.1:n.2177-678G>C
ENST00000683489.1:c.2292-210G>C	ENSP00000508403.1:n.2292-210G>C
ENST00000683680.1:c.2319-210G>C	ENSP00000507223.1:n.2319-210G>C
ENST00000684163.1:c.2204-678G>C	ENSP00000508262.1:n.2204-678G>C
ENST00000684196.1:n.4543-678G>C
ENST00000684325.1:c.2186-8488G>C	ENSP00000508121.1:n.2186-8488G>C
ENST00000684385.1:c.2221-678G>C	ENSP00000507855.1:n.2221-678G>C
ENST00000684497.1:c.2186-7518G>C	ENSP00000507057.1:n.2186-7518G>C
ENST00000382292.9:c.13714G>C MANE Select	ENSP00000371729.3:p.Glu4572Gln
ENST00000423156.2:c.2186-678G>C	ENSP00000390925.2:n.2186-678G>C
ENST00000455470.6:c.2432-678G>C	ENSP00000406565.2:n.2432-678G>C
ENST00000382292.7:c.13714G>C	ENSP00000371729.3:p.Glu4572Gln
ENST00000382298.7:c.13714G>C	ENSP00000371735.3:p.Glu4572Gln
ENST00000402364.1:c.11464G>C	ENSP00000385844.1:p.Glu3822Gln
ENST00000423156.1:c.1058-678G>C	ENSP00000390925.1:n.1058-678G>C
ENST00000455470.5:c.2130-678G>C
NM_001278055.1:c.13273G>C	NP_001264984.1:p.Glu4425Gln
NM_014363.5:c.13714G>C	NP_055178.3:p.Glu4572Gln
XM_005266338.1:c.13741G>C	XP_005266395.1:p.Glu4581Gln
XM_011535038.1:c.13765G>C	XP_011533340.1:p.Glu4589Gln
XM_011535039.1:c.13732G>C	XP_011533341.1:p.Glu4578Gln
XM_005266338.2:c.13741G>C	XP_005266395.1:p.Glu4581Gln
XM_011535039.2:c.13732G>C	XP_011533341.1:p.Glu4578Gln
XM_017020539.1:c.13705G>C	XP_016876028.1:p.Glu4569Gln
XM_024449337.1:c.13741G>C	XP_024305105.1:p.Glu4581Gln
NM_014363.6:c.13714G>C MANE Select	NP_055178.3:p.Glu4572Gln
NM_001278055.2:c.13273G>C	NP_001264984.1:p.Glu4425Gln