Canonical Allele Identifier: CA387528093

Gene: SACS

Linked Data

• dbSNP Id: rs1419193338
• gnomAD v2: 13-23913360-T-C
• gnomAD v3: 13-23339221-T-C
• gnomAD v4: 13-23339221-T-C
• MyVariant Identifiers: chr13:g.23913360T>C (hg19) ; chr13:g.23339221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339221T>C , CM000675.2:g.23339221T>C	GRCh38
NC_000013.10:g.23913360T>C , CM000675.1:g.23913360T>C	GRCh37
NC_000013.9:g.22811360T>C	NCBI36
NG_012342.1:g.99482A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14564A>G	ENSP00000508399.1:n.2185+14564A>G
ENST00000682944.1:c.4682A>G	ENSP00000507173.1:p.Lys1561Arg
ENST00000683210.1:c.2185+14564A>G	ENSP00000506739.1:n.2185+14564A>G
ENST00000683270.1:c.4646A>G	ENSP00000507624.1:p.Lys1549Arg
ENST00000683367.1:c.2177-9737A>G	ENSP00000507780.1:n.2177-9737A>G
ENST00000683489.1:c.2291+2364A>G	ENSP00000508403.1:n.2291+2364A>G
ENST00000683680.1:c.2318+2364A>G	ENSP00000507223.1:n.2318+2364A>G
ENST00000684163.1:c.2203+7590A>G	ENSP00000508262.1:n.2203+7590A>G
ENST00000684196.1:n.4543-9737A>G
ENST00000684325.1:c.2185+14564A>G	ENSP00000508121.1:n.2185+14564A>G
ENST00000684385.1:c.2220+7590A>G	ENSP00000507855.1:n.2220+7590A>G
ENST00000684497.1:c.2185+14564A>G	ENSP00000507057.1:n.2185+14564A>G
ENST00000382292.9:c.4655A>G MANE Select	ENSP00000371729.3:p.Lys1552Arg
ENST00000423156.2:c.2186-9737A>G	ENSP00000390925.2:n.2186-9737A>G
ENST00000455470.6:c.2431+2224A>G	ENSP00000406565.2:n.2431+2224A>G
ENST00000382292.7:c.4655A>G	ENSP00000371729.3:p.Lys1552Arg
ENST00000382298.7:c.4655A>G	ENSP00000371735.3:p.Lys1552Arg
ENST00000402364.1:c.2405A>G	ENSP00000385844.1:p.Lys802Arg
ENST00000423156.1:c.1058-9737A>G	ENSP00000390925.1:n.1058-9737A>G
ENST00000455470.5:c.2129+2224A>G
NM_001278055.1:c.4214A>G	NP_001264984.1:p.Lys1405Arg
NM_014363.5:c.4655A>G	NP_055178.3:p.Lys1552Arg
XM_005266338.1:c.4682A>G	XP_005266395.1:p.Lys1561Arg
XM_011535038.1:c.4706A>G	XP_011533340.1:p.Lys1569Arg
XM_011535039.1:c.4673A>G	XP_011533341.1:p.Lys1558Arg
XM_005266338.2:c.4682A>G	XP_005266395.1:p.Lys1561Arg
XM_011535039.2:c.4673A>G	XP_011533341.1:p.Lys1558Arg
XM_017020539.1:c.4646A>G	XP_016876028.1:p.Lys1549Arg
XM_024449337.1:c.4682A>G	XP_024305105.1:p.Lys1561Arg
NM_014363.6:c.4655A>G MANE Select	NP_055178.3:p.Lys1552Arg
NM_001278055.2:c.4214A>G	NP_001264984.1:p.Lys1405Arg