Canonical Allele Identifier: CA10639217

Gene: SACS

Linked Data

• ClinVar Variation Id: 311500
• ClinVar RCV Id: RCV000264951
• dbSNP Id: rs886050073
• MyVariant Identifiers: chr13:g.23905315A>G (hg19) ; chr13:g.23331176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331176A>G , CM000675.2:g.23331176A>G	GRCh38
NC_000013.10:g.23905315A>G , CM000675.1:g.23905315A>G	GRCh37
NC_000013.9:g.22803315A>G	NCBI36
NG_012342.1:g.107527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19061T>C	ENSP00000508399.1:n.2186-19061T>C
ENST00000682944.1:c.12727T>C	ENSP00000507173.1:p.Tyr4243His
ENST00000683210.1:c.2185+22609T>C	ENSP00000506739.1:n.2185+22609T>C
ENST00000683270.1:c.6446-1692T>C	ENSP00000507624.1:n.6446-1692T>C
ENST00000683367.1:c.2177-1692T>C	ENSP00000507780.1:n.2177-1692T>C
ENST00000683489.1:c.2292-1224T>C	ENSP00000508403.1:n.2292-1224T>C
ENST00000683680.1:c.2319-1224T>C	ENSP00000507223.1:n.2319-1224T>C
ENST00000684163.1:c.2204-1692T>C	ENSP00000508262.1:n.2204-1692T>C
ENST00000684196.1:n.4543-1692T>C
ENST00000684325.1:c.2186-9502T>C	ENSP00000508121.1:n.2186-9502T>C
ENST00000684385.1:c.2221-1692T>C	ENSP00000507855.1:n.2221-1692T>C
ENST00000684497.1:c.2186-8532T>C	ENSP00000507057.1:n.2186-8532T>C
ENST00000382292.9:c.12700T>C MANE Select	ENSP00000371729.3:p.Tyr4234His
ENST00000423156.2:c.2186-1692T>C	ENSP00000390925.2:n.2186-1692T>C
ENST00000455470.6:c.2432-1692T>C	ENSP00000406565.2:n.2432-1692T>C
ENST00000382292.7:c.12700T>C	ENSP00000371729.3:p.Tyr4234His
ENST00000382298.7:c.12700T>C	ENSP00000371735.3:p.Tyr4234His
ENST00000402364.1:c.10450T>C	ENSP00000385844.1:p.Tyr3484His
ENST00000423156.1:c.1058-1692T>C	ENSP00000390925.1:n.1058-1692T>C
ENST00000455470.5:c.2130-1692T>C
NM_001278055.1:c.12259T>C	NP_001264984.1:p.Tyr4087His
NM_014363.5:c.12700T>C	NP_055178.3:p.Tyr4234His
XM_005266338.1:c.12727T>C	XP_005266395.1:p.Tyr4243His
XM_011535038.1:c.12751T>C	XP_011533340.1:p.Tyr4251His
XM_011535039.1:c.12718T>C	XP_011533341.1:p.Tyr4240His
XM_005266338.2:c.12727T>C	XP_005266395.1:p.Tyr4243His
XM_011535039.2:c.12718T>C	XP_011533341.1:p.Tyr4240His
XM_017020539.1:c.12691T>C	XP_016876028.1:p.Tyr4231His
XM_024449337.1:c.12727T>C	XP_024305105.1:p.Tyr4243His
NM_014363.6:c.12700T>C MANE Select	NP_055178.3:p.Tyr4234His
NM_001278055.2:c.12259T>C	NP_001264984.1:p.Tyr4087His