Canonical Allele Identifier: CA387524653

Gene: SACS

Linked Data

• dbSNP Id: rs1014893612
• gnomAD v2: 13-23912185-C-T
• gnomAD v4: 13-23338046-C-T
• MyVariant Identifiers: chr13:g.23912185C>T (hg19) ; chr13:g.23338046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338046C>T , CM000675.2:g.23338046C>T	GRCh38
NC_000013.10:g.23912185C>T , CM000675.1:g.23912185C>T	GRCh37
NC_000013.9:g.22810185C>T	NCBI36
NG_012342.1:g.100657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15739G>A	ENSP00000508399.1:n.2185+15739G>A
ENST00000682944.1:c.5857G>A	ENSP00000507173.1:p.Ala1953Thr
ENST00000683210.1:c.2185+15739G>A	ENSP00000506739.1:n.2185+15739G>A
ENST00000683270.1:c.5821G>A	ENSP00000507624.1:p.Ala1941Thr
ENST00000683367.1:c.2177-8562G>A	ENSP00000507780.1:n.2177-8562G>A
ENST00000683489.1:c.2291+3539G>A	ENSP00000508403.1:n.2291+3539G>A
ENST00000683680.1:c.2318+3539G>A	ENSP00000507223.1:n.2318+3539G>A
ENST00000684163.1:c.2204-8562G>A	ENSP00000508262.1:n.2204-8562G>A
ENST00000684196.1:n.4543-8562G>A
ENST00000684325.1:c.2185+15739G>A	ENSP00000508121.1:n.2185+15739G>A
ENST00000684385.1:c.2221-8562G>A	ENSP00000507855.1:n.2221-8562G>A
ENST00000684497.1:c.2186-15402G>A	ENSP00000507057.1:n.2186-15402G>A
ENST00000382292.9:c.5830G>A MANE Select	ENSP00000371729.3:p.Ala1944Thr
ENST00000423156.2:c.2186-8562G>A	ENSP00000390925.2:n.2186-8562G>A
ENST00000455470.6:c.2431+3399G>A	ENSP00000406565.2:n.2431+3399G>A
ENST00000382292.7:c.5830G>A	ENSP00000371729.3:p.Ala1944Thr
ENST00000382298.7:c.5830G>A	ENSP00000371735.3:p.Ala1944Thr
ENST00000402364.1:c.3580G>A	ENSP00000385844.1:p.Ala1194Thr
ENST00000423156.1:c.1058-8562G>A	ENSP00000390925.1:n.1058-8562G>A
ENST00000455470.5:c.2129+3399G>A
NM_001278055.1:c.5389G>A	NP_001264984.1:p.Ala1797Thr
NM_014363.5:c.5830G>A	NP_055178.3:p.Ala1944Thr
XM_005266338.1:c.5857G>A	XP_005266395.1:p.Ala1953Thr
XM_011535038.1:c.5881G>A	XP_011533340.1:p.Ala1961Thr
XM_011535039.1:c.5848G>A	XP_011533341.1:p.Ala1950Thr
XM_005266338.2:c.5857G>A	XP_005266395.1:p.Ala1953Thr
XM_011535039.2:c.5848G>A	XP_011533341.1:p.Ala1950Thr
XM_017020539.1:c.5821G>A	XP_016876028.1:p.Ala1941Thr
XM_024449337.1:c.5857G>A	XP_024305105.1:p.Ala1953Thr
NM_014363.6:c.5830G>A MANE Select	NP_055178.3:p.Ala1944Thr
NM_001278055.2:c.5389G>A	NP_001264984.1:p.Ala1797Thr