Canonical Allele Identifier: CA6910646

Gene: SACS

Linked Data

• ClinVar Variation Id: 2916850
• ClinVar RCV Id: RCV003751524
• dbSNP Id: rs767592889
• ExAC: 13:23908774 G / A
• gnomAD v2: 13-23908774-G-A
• gnomAD v4: 13-23334635-G-A
• MyVariant Identifiers: chr13:g.23908774G>A (hg19) ; chr13:g.23334635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334635G>A , CM000675.2:g.23334635G>A	GRCh38
NC_000013.10:g.23908774G>A , CM000675.1:g.23908774G>A	GRCh37
NC_000013.9:g.22806774G>A	NCBI36
NG_012342.1:g.104068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19150C>T	ENSP00000508399.1:n.2185+19150C>T
ENST00000682944.1:c.9268C>T	ENSP00000507173.1:p.His3090Tyr
ENST00000683210.1:c.2185+19150C>T	ENSP00000506739.1:n.2185+19150C>T
ENST00000683270.1:c.6445+2787C>T	ENSP00000507624.1:n.6445+2787C>T
ENST00000683367.1:c.2177-5151C>T	ENSP00000507780.1:n.2177-5151C>T
ENST00000683489.1:c.2292-4683C>T	ENSP00000508403.1:n.2292-4683C>T
ENST00000683680.1:c.2319-4683C>T	ENSP00000507223.1:n.2319-4683C>T
ENST00000684163.1:c.2204-5151C>T	ENSP00000508262.1:n.2204-5151C>T
ENST00000684196.1:n.4543-5151C>T
ENST00000684325.1:c.2186-12961C>T	ENSP00000508121.1:n.2186-12961C>T
ENST00000684385.1:c.2221-5151C>T	ENSP00000507855.1:n.2221-5151C>T
ENST00000684497.1:c.2186-11991C>T	ENSP00000507057.1:n.2186-11991C>T
ENST00000382292.9:c.9241C>T MANE Select	ENSP00000371729.3:p.His3081Tyr
ENST00000423156.2:c.2186-5151C>T	ENSP00000390925.2:n.2186-5151C>T
ENST00000455470.6:c.2432-5151C>T	ENSP00000406565.2:n.2432-5151C>T
ENST00000382292.7:c.9241C>T	ENSP00000371729.3:p.His3081Tyr
ENST00000382298.7:c.9241C>T	ENSP00000371735.3:p.His3081Tyr
ENST00000402364.1:c.6991C>T	ENSP00000385844.1:p.His2331Tyr
ENST00000423156.1:c.1058-5151C>T	ENSP00000390925.1:n.1058-5151C>T
ENST00000455470.5:c.2130-5151C>T
NM_001278055.1:c.8800C>T	NP_001264984.1:p.His2934Tyr
NM_014363.5:c.9241C>T	NP_055178.3:p.His3081Tyr
XM_005266338.1:c.9268C>T	XP_005266395.1:p.His3090Tyr
XM_011535038.1:c.9292C>T	XP_011533340.1:p.His3098Tyr
XM_011535039.1:c.9259C>T	XP_011533341.1:p.His3087Tyr
XM_005266338.2:c.9268C>T	XP_005266395.1:p.His3090Tyr
XM_011535039.2:c.9259C>T	XP_011533341.1:p.His3087Tyr
XM_017020539.1:c.9232C>T	XP_016876028.1:p.His3078Tyr
XM_024449337.1:c.9268C>T	XP_024305105.1:p.His3090Tyr
NM_014363.6:c.9241C>T MANE Select	NP_055178.3:p.His3081Tyr
NM_001278055.2:c.8800C>T	NP_001264984.1:p.His2934Tyr