Canonical Allele Identifier: CA483161985

Gene: SACS

Linked Data

• gnomAD v4: 13-23338353-T-C
• MyVariant Identifiers: chr13:g.23912492T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338353T>C , CM000675.2:g.23338353T>C	GRCh38
NC_000013.10:g.23912492T>C , CM000675.1:g.23912492T>C	GRCh37
NC_000013.9:g.22810492T>C	NCBI36
NG_012342.1:g.100350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15432A>G	ENSP00000508399.1:n.2185+15432A>G
ENST00000682944.1:c.5550A>G	ENSP00000507173.1:p.Leu1850=
ENST00000683210.1:c.2185+15432A>G	ENSP00000506739.1:n.2185+15432A>G
ENST00000683270.1:c.5514A>G	ENSP00000507624.1:p.Leu1838=
ENST00000683367.1:c.2177-8869A>G	ENSP00000507780.1:n.2177-8869A>G
ENST00000683489.1:c.2291+3232A>G	ENSP00000508403.1:n.2291+3232A>G
ENST00000683680.1:c.2318+3232A>G	ENSP00000507223.1:n.2318+3232A>G
ENST00000684163.1:c.2203+8458A>G	ENSP00000508262.1:n.2203+8458A>G
ENST00000684196.1:n.4543-8869A>G
ENST00000684325.1:c.2185+15432A>G	ENSP00000508121.1:n.2185+15432A>G
ENST00000684385.1:c.2220+8458A>G	ENSP00000507855.1:n.2220+8458A>G
ENST00000684497.1:c.2185+15432A>G	ENSP00000507057.1:n.2185+15432A>G
ENST00000382292.9:c.5523A>G MANE Select	ENSP00000371729.3:p.Leu1841=
ENST00000423156.2:c.2186-8869A>G	ENSP00000390925.2:n.2186-8869A>G
ENST00000455470.6:c.2431+3092A>G	ENSP00000406565.2:n.2431+3092A>G
ENST00000382292.7:c.5523A>G	ENSP00000371729.3:p.Leu1841=
ENST00000382298.7:c.5523A>G	ENSP00000371735.3:p.Leu1841=
ENST00000402364.1:c.3273A>G	ENSP00000385844.1:p.Leu1091=
ENST00000423156.1:c.1058-8869A>G	ENSP00000390925.1:n.1058-8869A>G
ENST00000455470.5:c.2129+3092A>G
NM_001278055.1:c.5082A>G	NP_001264984.1:p.Leu1694=
NM_014363.5:c.5523A>G	NP_055178.3:p.Leu1841=
XM_005266338.1:c.5550A>G	XP_005266395.1:p.Leu1850=
XM_011535038.1:c.5574A>G	XP_011533340.1:p.Leu1858=
XM_011535039.1:c.5541A>G	XP_011533341.1:p.Leu1847=
XM_005266338.2:c.5550A>G	XP_005266395.1:p.Leu1850=
XM_011535039.2:c.5541A>G	XP_011533341.1:p.Leu1847=
XM_017020539.1:c.5514A>G	XP_016876028.1:p.Leu1838=
XM_024449337.1:c.5550A>G	XP_024305105.1:p.Leu1850=
NM_014363.6:c.5523A>G MANE Select	NP_055178.3:p.Leu1841=
NM_001278055.2:c.5082A>G	NP_001264984.1:p.Leu1694=