Canonical Allele Identifier: CA387514290

Gene: SACS

Linked Data

• dbSNP Id: rs1224057494
• gnomAD v2: 13-23908512-G-C
• MyVariant Identifiers: chr13:g.23908512G>C (hg19) ; chr13:g.23334373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334373G>C , CM000675.2:g.23334373G>C	GRCh38
NC_000013.10:g.23908512G>C , CM000675.1:g.23908512G>C	GRCh37
NC_000013.9:g.22806512G>C	NCBI36
NG_012342.1:g.104330C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19412C>G	ENSP00000508399.1:n.2185+19412C>G
ENST00000682944.1:c.9530C>G	ENSP00000507173.1:p.Ala3177Gly
ENST00000683210.1:c.2185+19412C>G	ENSP00000506739.1:n.2185+19412C>G
ENST00000683270.1:c.6445+3049C>G	ENSP00000507624.1:n.6445+3049C>G
ENST00000683367.1:c.2177-4889C>G	ENSP00000507780.1:n.2177-4889C>G
ENST00000683489.1:c.2292-4421C>G	ENSP00000508403.1:n.2292-4421C>G
ENST00000683680.1:c.2319-4421C>G	ENSP00000507223.1:n.2319-4421C>G
ENST00000684163.1:c.2204-4889C>G	ENSP00000508262.1:n.2204-4889C>G
ENST00000684196.1:n.4543-4889C>G
ENST00000684325.1:c.2186-12699C>G	ENSP00000508121.1:n.2186-12699C>G
ENST00000684385.1:c.2221-4889C>G	ENSP00000507855.1:n.2221-4889C>G
ENST00000684497.1:c.2186-11729C>G	ENSP00000507057.1:n.2186-11729C>G
ENST00000382292.9:c.9503C>G MANE Select	ENSP00000371729.3:p.Ala3168Gly
ENST00000423156.2:c.2186-4889C>G	ENSP00000390925.2:n.2186-4889C>G
ENST00000455470.6:c.2432-4889C>G	ENSP00000406565.2:n.2432-4889C>G
ENST00000382292.7:c.9503C>G	ENSP00000371729.3:p.Ala3168Gly
ENST00000382298.7:c.9503C>G	ENSP00000371735.3:p.Ala3168Gly
ENST00000402364.1:c.7253C>G	ENSP00000385844.1:p.Ala2418Gly
ENST00000423156.1:c.1058-4889C>G	ENSP00000390925.1:n.1058-4889C>G
ENST00000455470.5:c.2130-4889C>G
NM_001278055.1:c.9062C>G	NP_001264984.1:p.Ala3021Gly
NM_014363.5:c.9503C>G	NP_055178.3:p.Ala3168Gly
XM_005266338.1:c.9530C>G	XP_005266395.1:p.Ala3177Gly
XM_011535038.1:c.9554C>G	XP_011533340.1:p.Ala3185Gly
XM_011535039.1:c.9521C>G	XP_011533341.1:p.Ala3174Gly
XM_005266338.2:c.9530C>G	XP_005266395.1:p.Ala3177Gly
XM_011535039.2:c.9521C>G	XP_011533341.1:p.Ala3174Gly
XM_017020539.1:c.9494C>G	XP_016876028.1:p.Ala3165Gly
XM_024449337.1:c.9530C>G	XP_024305105.1:p.Ala3177Gly
NM_014363.6:c.9503C>G MANE Select	NP_055178.3:p.Ala3168Gly
NM_001278055.2:c.9062C>G	NP_001264984.1:p.Ala3021Gly