Canonical Allele Identifier: CA387519964

Gene: SACS

Linked Data

• ClinVar Variation Id: 1180639
• ClinVar RCV Id: RCV001814368
• dbSNP Id: rs762475019
• MyVariant Identifiers: chr13:g.23910881A>C (hg19) ; chr13:g.23336742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336742A>C , CM000675.2:g.23336742A>C	GRCh38
NC_000013.10:g.23910881A>C , CM000675.1:g.23910881A>C	GRCh37
NC_000013.9:g.22808881A>C	NCBI36
NG_012342.1:g.101961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17043T>G	ENSP00000508399.1:n.2185+17043T>G
ENST00000682944.1:c.7161T>G	ENSP00000507173.1:p.Tyr2387Ter
ENST00000683210.1:c.2185+17043T>G	ENSP00000506739.1:n.2185+17043T>G
ENST00000683270.1:c.6445+680T>G	ENSP00000507624.1:n.6445+680T>G
ENST00000683367.1:c.2177-7258T>G	ENSP00000507780.1:n.2177-7258T>G
ENST00000683489.1:c.2291+4843T>G	ENSP00000508403.1:n.2291+4843T>G
ENST00000683680.1:c.2318+4843T>G	ENSP00000507223.1:n.2318+4843T>G
ENST00000684163.1:c.2204-7258T>G	ENSP00000508262.1:n.2204-7258T>G
ENST00000684196.1:n.4543-7258T>G
ENST00000684325.1:c.2186-15068T>G	ENSP00000508121.1:n.2186-15068T>G
ENST00000684385.1:c.2221-7258T>G	ENSP00000507855.1:n.2221-7258T>G
ENST00000684497.1:c.2186-14098T>G	ENSP00000507057.1:n.2186-14098T>G
ENST00000382292.9:c.7134T>G MANE Select	ENSP00000371729.3:p.Tyr2378Ter
ENST00000423156.2:c.2186-7258T>G	ENSP00000390925.2:n.2186-7258T>G
ENST00000455470.6:c.2431+4703T>G	ENSP00000406565.2:n.2431+4703T>G
ENST00000382292.7:c.7134T>G	ENSP00000371729.3:p.Tyr2378Ter
ENST00000382298.7:c.7134T>G	ENSP00000371735.3:p.Tyr2378Ter
ENST00000402364.1:c.4884T>G	ENSP00000385844.1:p.Tyr1628Ter
ENST00000423156.1:c.1058-7258T>G	ENSP00000390925.1:n.1058-7258T>G
ENST00000455470.5:c.2129+4703T>G
NM_001278055.1:c.6693T>G	NP_001264984.1:p.Tyr2231Ter
NM_014363.5:c.7134T>G	NP_055178.3:p.Tyr2378Ter
XM_005266338.1:c.7161T>G	XP_005266395.1:p.Tyr2387Ter
XM_011535038.1:c.7185T>G	XP_011533340.1:p.Tyr2395Ter
XM_011535039.1:c.7152T>G	XP_011533341.1:p.Tyr2384Ter
XM_005266338.2:c.7161T>G	XP_005266395.1:p.Tyr2387Ter
XM_011535039.2:c.7152T>G	XP_011533341.1:p.Tyr2384Ter
XM_017020539.1:c.7125T>G	XP_016876028.1:p.Tyr2375Ter
XM_024449337.1:c.7161T>G	XP_024305105.1:p.Tyr2387Ter
NM_014363.6:c.7134T>G MANE Select	NP_055178.3:p.Tyr2378Ter
NM_001278055.2:c.6693T>G	NP_001264984.1:p.Tyr2231Ter