Canonical Allele Identifier: CA387514813

Gene: SACS

Linked Data

• ClinVar Variation Id: 812776
• ClinVar RCV Id: RCV001003607
• dbSNP Id: rs1593125290
• MyVariant Identifiers: chr13:g.23908749G>A (hg19) ; chr13:g.23334610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334610G>A , CM000675.2:g.23334610G>A	GRCh38
NC_000013.10:g.23908749G>A , CM000675.1:g.23908749G>A	GRCh37
NC_000013.9:g.22806749G>A	NCBI36
NG_012342.1:g.104093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19175C>T	ENSP00000508399.1:n.2185+19175C>T
ENST00000682944.1:c.9293C>T	ENSP00000507173.1:p.Pro3098Leu
ENST00000683210.1:c.2185+19175C>T	ENSP00000506739.1:n.2185+19175C>T
ENST00000683270.1:c.6445+2812C>T	ENSP00000507624.1:n.6445+2812C>T
ENST00000683367.1:c.2177-5126C>T	ENSP00000507780.1:n.2177-5126C>T
ENST00000683489.1:c.2292-4658C>T	ENSP00000508403.1:n.2292-4658C>T
ENST00000683680.1:c.2319-4658C>T	ENSP00000507223.1:n.2319-4658C>T
ENST00000684163.1:c.2204-5126C>T	ENSP00000508262.1:n.2204-5126C>T
ENST00000684196.1:n.4543-5126C>T
ENST00000684325.1:c.2186-12936C>T	ENSP00000508121.1:n.2186-12936C>T
ENST00000684385.1:c.2221-5126C>T	ENSP00000507855.1:n.2221-5126C>T
ENST00000684497.1:c.2186-11966C>T	ENSP00000507057.1:n.2186-11966C>T
ENST00000382292.9:c.9266C>T MANE Select	ENSP00000371729.3:p.Pro3089Leu
ENST00000423156.2:c.2186-5126C>T	ENSP00000390925.2:n.2186-5126C>T
ENST00000455470.6:c.2432-5126C>T	ENSP00000406565.2:n.2432-5126C>T
ENST00000382292.7:c.9266C>T	ENSP00000371729.3:p.Pro3089Leu
ENST00000382298.7:c.9266C>T	ENSP00000371735.3:p.Pro3089Leu
ENST00000402364.1:c.7016C>T	ENSP00000385844.1:p.Pro2339Leu
ENST00000423156.1:c.1058-5126C>T	ENSP00000390925.1:n.1058-5126C>T
ENST00000455470.5:c.2130-5126C>T
NM_001278055.1:c.8825C>T	NP_001264984.1:p.Pro2942Leu
NM_014363.5:c.9266C>T	NP_055178.3:p.Pro3089Leu
XM_005266338.1:c.9293C>T	XP_005266395.1:p.Pro3098Leu
XM_011535038.1:c.9317C>T	XP_011533340.1:p.Pro3106Leu
XM_011535039.1:c.9284C>T	XP_011533341.1:p.Pro3095Leu
XM_005266338.2:c.9293C>T	XP_005266395.1:p.Pro3098Leu
XM_011535039.2:c.9284C>T	XP_011533341.1:p.Pro3095Leu
XM_017020539.1:c.9257C>T	XP_016876028.1:p.Pro3086Leu
XM_024449337.1:c.9293C>T	XP_024305105.1:p.Pro3098Leu
NM_014363.6:c.9266C>T MANE Select	NP_055178.3:p.Pro3089Leu
NM_001278055.2:c.8825C>T	NP_001264984.1:p.Pro2942Leu