Canonical Allele Identifier: CA6909984

Gene: SACS

Linked Data

• ClinVar Variation Id: 2807058
• ClinVar RCV Id: RCV003751687
• dbSNP Id: rs761675141
• ExAC: 13:23904711 G / A
• gnomAD v2: 13-23904711-G-A
• gnomAD v4: 13-23330572-G-A
• MyVariant Identifiers: chr13:g.23904711G>A (hg19) ; chr13:g.23330572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330572G>A , CM000675.2:g.23330572G>A	GRCh38
NC_000013.10:g.23904711G>A , CM000675.1:g.23904711G>A	GRCh37
NC_000013.9:g.22802711G>A	NCBI36
NG_012342.1:g.108131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18457C>T	ENSP00000508399.1:n.2186-18457C>T
ENST00000682944.1:c.13331C>T	ENSP00000507173.1:p.Pro4444Leu
ENST00000683210.1:c.2185+23213C>T	ENSP00000506739.1:n.2185+23213C>T
ENST00000683270.1:c.6446-1088C>T	ENSP00000507624.1:n.6446-1088C>T
ENST00000683367.1:c.2177-1088C>T	ENSP00000507780.1:n.2177-1088C>T
ENST00000683489.1:c.2292-620C>T	ENSP00000508403.1:n.2292-620C>T
ENST00000683680.1:c.2319-620C>T	ENSP00000507223.1:n.2319-620C>T
ENST00000684163.1:c.2204-1088C>T	ENSP00000508262.1:n.2204-1088C>T
ENST00000684196.1:n.4543-1088C>T
ENST00000684325.1:c.2186-8898C>T	ENSP00000508121.1:n.2186-8898C>T
ENST00000684385.1:c.2221-1088C>T	ENSP00000507855.1:n.2221-1088C>T
ENST00000684497.1:c.2186-7928C>T	ENSP00000507057.1:n.2186-7928C>T
ENST00000382292.9:c.13304C>T MANE Select	ENSP00000371729.3:p.Pro4435Leu
ENST00000423156.2:c.2186-1088C>T	ENSP00000390925.2:n.2186-1088C>T
ENST00000455470.6:c.2432-1088C>T	ENSP00000406565.2:n.2432-1088C>T
ENST00000382292.7:c.13304C>T	ENSP00000371729.3:p.Pro4435Leu
ENST00000382298.7:c.13304C>T	ENSP00000371735.3:p.Pro4435Leu
ENST00000402364.1:c.11054C>T	ENSP00000385844.1:p.Pro3685Leu
ENST00000423156.1:c.1058-1088C>T	ENSP00000390925.1:n.1058-1088C>T
ENST00000455470.5:c.2130-1088C>T
NM_001278055.1:c.12863C>T	NP_001264984.1:p.Pro4288Leu
NM_014363.5:c.13304C>T	NP_055178.3:p.Pro4435Leu
XM_005266338.1:c.13331C>T	XP_005266395.1:p.Pro4444Leu
XM_011535038.1:c.13355C>T	XP_011533340.1:p.Pro4452Leu
XM_011535039.1:c.13322C>T	XP_011533341.1:p.Pro4441Leu
XM_005266338.2:c.13331C>T	XP_005266395.1:p.Pro4444Leu
XM_011535039.2:c.13322C>T	XP_011533341.1:p.Pro4441Leu
XM_017020539.1:c.13295C>T	XP_016876028.1:p.Pro4432Leu
XM_024449337.1:c.13331C>T	XP_024305105.1:p.Pro4444Leu
NM_014363.6:c.13304C>T MANE Select	NP_055178.3:p.Pro4435Leu
NM_001278055.2:c.12863C>T	NP_001264984.1:p.Pro4288Leu