Canonical Allele Identifier: CA387535206

Gene: SACS

Linked Data

• dbSNP Id: rs761678557
• gnomAD v3: 13-23340430-A-T
• gnomAD v4: 13-23340430-A-T
• MyVariant Identifiers: chr13:g.23914569A>T (hg19) ; chr13:g.23340430A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340430A>T , CM000675.2:g.23340430A>T	GRCh38
NC_000013.10:g.23914569A>T , CM000675.1:g.23914569A>T	GRCh37
NC_000013.9:g.22812569A>T	NCBI36
NG_012342.1:g.98273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13355T>A	ENSP00000508399.1:n.2185+13355T>A
ENST00000682944.1:c.3473T>A	ENSP00000507173.1:p.Met1158Lys
ENST00000683210.1:c.2185+13355T>A	ENSP00000506739.1:n.2185+13355T>A
ENST00000683270.1:c.3437T>A	ENSP00000507624.1:p.Met1146Lys
ENST00000683367.1:c.2177-10946T>A	ENSP00000507780.1:n.2177-10946T>A
ENST00000683489.1:c.2291+1155T>A	ENSP00000508403.1:n.2291+1155T>A
ENST00000683680.1:c.2318+1155T>A	ENSP00000507223.1:n.2318+1155T>A
ENST00000684163.1:c.2203+6381T>A	ENSP00000508262.1:n.2203+6381T>A
ENST00000684196.1:n.4543-10946T>A
ENST00000684325.1:c.2185+13355T>A	ENSP00000508121.1:n.2185+13355T>A
ENST00000684385.1:c.2220+6381T>A	ENSP00000507855.1:n.2220+6381T>A
ENST00000684497.1:c.2185+13355T>A	ENSP00000507057.1:n.2185+13355T>A
ENST00000382292.9:c.3446T>A MANE Select	ENSP00000371729.3:p.Met1149Lys
ENST00000423156.2:c.2186-10946T>A	ENSP00000390925.2:n.2186-10946T>A
ENST00000455470.6:c.2431+1015T>A	ENSP00000406565.2:n.2431+1015T>A
ENST00000382292.7:c.3446T>A	ENSP00000371729.3:p.Met1149Lys
ENST00000382298.7:c.3446T>A	ENSP00000371735.3:p.Met1149Lys
ENST00000402364.1:c.1196T>A	ENSP00000385844.1:p.Met399Lys
ENST00000423156.1:c.1058-10946T>A	ENSP00000390925.1:n.1058-10946T>A
ENST00000455470.5:c.2129+1015T>A
NM_001278055.1:c.3005T>A	NP_001264984.1:p.Met1002Lys
NM_014363.5:c.3446T>A	NP_055178.3:p.Met1149Lys
XM_005266338.1:c.3473T>A	XP_005266395.1:p.Met1158Lys
XM_011535038.1:c.3497T>A	XP_011533340.1:p.Met1166Lys
XM_011535039.1:c.3464T>A	XP_011533341.1:p.Met1155Lys
XM_005266338.2:c.3473T>A	XP_005266395.1:p.Met1158Lys
XM_011535039.2:c.3464T>A	XP_011533341.1:p.Met1155Lys
XM_017020539.1:c.3437T>A	XP_016876028.1:p.Met1146Lys
XM_024449337.1:c.3473T>A	XP_024305105.1:p.Met1158Lys
NM_014363.6:c.3446T>A MANE Select	NP_055178.3:p.Met1149Lys
NM_001278055.2:c.3005T>A	NP_001264984.1:p.Met1002Lys