Canonical Allele Identifier: CA387516772

Gene: SACS

Linked Data

• ClinVar Variation Id: 558263
• ClinVar RCV Id: RCV000674504 ; RCV002532164
• dbSNP Id: rs1240368715
• gnomAD v2: 13-23909638-G-A
• gnomAD v4: 13-23335499-G-A
• MyVariant Identifiers: chr13:g.23909638G>A (hg19) ; chr13:g.23335499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335499G>A , CM000675.2:g.23335499G>A	GRCh38
NC_000013.10:g.23909638G>A , CM000675.1:g.23909638G>A	GRCh37
NC_000013.9:g.22807638G>A	NCBI36
NG_012342.1:g.103204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18286C>T	ENSP00000508399.1:n.2185+18286C>T
ENST00000682944.1:c.8404C>T	ENSP00000507173.1:p.Gln2802Ter
ENST00000683210.1:c.2185+18286C>T	ENSP00000506739.1:n.2185+18286C>T
ENST00000683270.1:c.6445+1923C>T	ENSP00000507624.1:n.6445+1923C>T
ENST00000683367.1:c.2177-6015C>T	ENSP00000507780.1:n.2177-6015C>T
ENST00000683489.1:c.2292-5547C>T	ENSP00000508403.1:n.2292-5547C>T
ENST00000683680.1:c.2319-5547C>T	ENSP00000507223.1:n.2319-5547C>T
ENST00000684163.1:c.2204-6015C>T	ENSP00000508262.1:n.2204-6015C>T
ENST00000684196.1:n.4543-6015C>T
ENST00000684325.1:c.2186-13825C>T	ENSP00000508121.1:n.2186-13825C>T
ENST00000684385.1:c.2221-6015C>T	ENSP00000507855.1:n.2221-6015C>T
ENST00000684497.1:c.2186-12855C>T	ENSP00000507057.1:n.2186-12855C>T
ENST00000382292.9:c.8377C>T MANE Select	ENSP00000371729.3:p.Gln2793Ter
ENST00000423156.2:c.2186-6015C>T	ENSP00000390925.2:n.2186-6015C>T
ENST00000455470.6:c.2431+5946C>T	ENSP00000406565.2:n.2431+5946C>T
ENST00000382292.7:c.8377C>T	ENSP00000371729.3:p.Gln2793Ter
ENST00000382298.7:c.8377C>T	ENSP00000371735.3:p.Gln2793Ter
ENST00000402364.1:c.6127C>T	ENSP00000385844.1:p.Gln2043Ter
ENST00000423156.1:c.1058-6015C>T	ENSP00000390925.1:n.1058-6015C>T
ENST00000455470.5:c.2129+5946C>T
NM_001278055.1:c.7936C>T	NP_001264984.1:p.Gln2646Ter
NM_014363.5:c.8377C>T	NP_055178.3:p.Gln2793Ter
XM_005266338.1:c.8404C>T	XP_005266395.1:p.Gln2802Ter
XM_011535038.1:c.8428C>T	XP_011533340.1:p.Gln2810Ter
XM_011535039.1:c.8395C>T	XP_011533341.1:p.Gln2799Ter
XM_005266338.2:c.8404C>T	XP_005266395.1:p.Gln2802Ter
XM_011535039.2:c.8395C>T	XP_011533341.1:p.Gln2799Ter
XM_017020539.1:c.8368C>T	XP_016876028.1:p.Gln2790Ter
XM_024449337.1:c.8404C>T	XP_024305105.1:p.Gln2802Ter
NM_014363.6:c.8377C>T MANE Select	NP_055178.3:p.Gln2793Ter
NM_001278055.2:c.7936C>T	NP_001264984.1:p.Gln2646Ter