Canonical Allele Identifier: CA387519768

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910789T>C (hg19) ; chr13:g.23336650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336650T>C , CM000675.2:g.23336650T>C	GRCh38
NC_000013.10:g.23910789T>C , CM000675.1:g.23910789T>C	GRCh37
NC_000013.9:g.22808789T>C	NCBI36
NG_012342.1:g.102053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17135A>G	ENSP00000508399.1:n.2185+17135A>G
ENST00000682944.1:c.7253A>G	ENSP00000507173.1:p.Gln2418Arg
ENST00000683210.1:c.2185+17135A>G	ENSP00000506739.1:n.2185+17135A>G
ENST00000683270.1:c.6445+772A>G	ENSP00000507624.1:n.6445+772A>G
ENST00000683367.1:c.2177-7166A>G	ENSP00000507780.1:n.2177-7166A>G
ENST00000683489.1:c.2291+4935A>G	ENSP00000508403.1:n.2291+4935A>G
ENST00000683680.1:c.2318+4935A>G	ENSP00000507223.1:n.2318+4935A>G
ENST00000684163.1:c.2204-7166A>G	ENSP00000508262.1:n.2204-7166A>G
ENST00000684196.1:n.4543-7166A>G
ENST00000684325.1:c.2186-14976A>G	ENSP00000508121.1:n.2186-14976A>G
ENST00000684385.1:c.2221-7166A>G	ENSP00000507855.1:n.2221-7166A>G
ENST00000684497.1:c.2186-14006A>G	ENSP00000507057.1:n.2186-14006A>G
ENST00000382292.9:c.7226A>G MANE Select	ENSP00000371729.3:p.Gln2409Arg
ENST00000423156.2:c.2186-7166A>G	ENSP00000390925.2:n.2186-7166A>G
ENST00000455470.6:c.2431+4795A>G	ENSP00000406565.2:n.2431+4795A>G
ENST00000382292.7:c.7226A>G	ENSP00000371729.3:p.Gln2409Arg
ENST00000382298.7:c.7226A>G	ENSP00000371735.3:p.Gln2409Arg
ENST00000402364.1:c.4976A>G	ENSP00000385844.1:p.Gln1659Arg
ENST00000423156.1:c.1058-7166A>G	ENSP00000390925.1:n.1058-7166A>G
ENST00000455470.5:c.2129+4795A>G
NM_001278055.1:c.6785A>G	NP_001264984.1:p.Gln2262Arg
NM_014363.5:c.7226A>G	NP_055178.3:p.Gln2409Arg
XM_005266338.1:c.7253A>G	XP_005266395.1:p.Gln2418Arg
XM_011535038.1:c.7277A>G	XP_011533340.1:p.Gln2426Arg
XM_011535039.1:c.7244A>G	XP_011533341.1:p.Gln2415Arg
XM_005266338.2:c.7253A>G	XP_005266395.1:p.Gln2418Arg
XM_011535039.2:c.7244A>G	XP_011533341.1:p.Gln2415Arg
XM_017020539.1:c.7217A>G	XP_016876028.1:p.Gln2406Arg
XM_024449337.1:c.7253A>G	XP_024305105.1:p.Gln2418Arg
NM_014363.6:c.7226A>G MANE Select	NP_055178.3:p.Gln2409Arg
NM_001278055.2:c.6785A>G	NP_001264984.1:p.Gln2262Arg