Canonical Allele Identifier: CA387547509

Gene: SACS

Linked Data

• ClinVar Variation Id: 3004186
• ClinVar RCV Id: RCV003865825
• dbSNP Id: rs1440516820
• gnomAD v2: 13-23929126-T-G
• gnomAD v3: 13-23354987-T-G
• gnomAD v4: 13-23354987-T-G
• MyVariant Identifiers: chr13:g.23929126T>G (hg19) ; chr13:g.23354987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354987T>G , CM000675.2:g.23354987T>G	GRCh38
NC_000013.10:g.23929126T>G , CM000675.1:g.23929126T>G	GRCh37
NC_000013.9:g.22827126T>G	NCBI36
NG_012342.1:g.83716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1625A>C	ENSP00000508399.1:p.Lys542Thr
ENST00000682944.1:c.1625A>C	ENSP00000507173.1:p.Lys542Thr
ENST00000683154.1:n.1763A>C
ENST00000683210.1:c.1625A>C	ENSP00000506739.1:p.Lys542Thr
ENST00000683270.1:c.1616A>C	ENSP00000507624.1:p.Lys539Thr
ENST00000683367.1:c.1616A>C	ENSP00000507780.1:p.Lys539Thr
ENST00000683489.1:c.1625A>C	ENSP00000508403.1:p.Lys542Thr
ENST00000683680.1:c.1625A>C	ENSP00000507223.1:p.Lys542Thr
ENST00000684163.1:c.1616A>C	ENSP00000508262.1:p.Lys539Thr
ENST00000684196.1:n.3982A>C
ENST00000684325.1:c.1625A>C	ENSP00000508121.1:p.Lys542Thr
ENST00000684385.1:c.1625A>C	ENSP00000507855.1:p.Lys542Thr
ENST00000684497.1:c.1625A>C	ENSP00000507057.1:p.Lys542Thr
ENST00000382292.9:c.1625A>C MANE Select	ENSP00000371729.3:p.Lys542Thr
ENST00000423156.2:c.1625A>C	ENSP00000390925.2:p.Lys542Thr
ENST00000455470.6:c.1625A>C	ENSP00000406565.2:p.Lys542Thr
ENST00000382292.7:c.1625A>C	ENSP00000371729.3:p.Lys542Thr
ENST00000382298.7:c.1625A>C	ENSP00000371735.3:p.Lys542Thr
ENST00000402364.1:c.-626A>C	ENSP00000385844.1:n.-626A>C
ENST00000423156.1:c.497A>C	ENSP00000390925.1:p.Lys166Thr
ENST00000455470.5:c.1323A>C
NM_001278055.1:c.1184A>C	NP_001264984.1:p.Lys395Thr
NM_014363.5:c.1625A>C	NP_055178.3:p.Lys542Thr
XM_005266338.1:c.1625A>C	XP_005266395.1:p.Lys542Thr
XM_011535038.1:c.1649A>C	XP_011533340.1:p.Lys550Thr
XM_011535039.1:c.1616A>C	XP_011533341.1:p.Lys539Thr
XM_005266338.2:c.1625A>C	XP_005266395.1:p.Lys542Thr
XM_011535039.2:c.1616A>C	XP_011533341.1:p.Lys539Thr
XM_017020539.1:c.1616A>C	XP_016876028.1:p.Lys539Thr
XM_024449337.1:c.1625A>C	XP_024305105.1:p.Lys542Thr
NM_014363.6:c.1625A>C MANE Select	NP_055178.3:p.Lys542Thr
NM_001278055.2:c.1184A>C	NP_001264984.1:p.Lys395Thr