Canonical Allele Identifier: CA387537333

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915104C>A (hg19) ; chr13:g.23340965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340965C>A , CM000675.2:g.23340965C>A	GRCh38
NC_000013.10:g.23915104C>A , CM000675.1:g.23915104C>A	GRCh37
NC_000013.9:g.22813104C>A	NCBI36
NG_012342.1:g.97738G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12820G>T	ENSP00000508399.1:n.2185+12820G>T
ENST00000682944.1:c.2938G>T	ENSP00000507173.1:p.Asp980Tyr
ENST00000683210.1:c.2185+12820G>T	ENSP00000506739.1:n.2185+12820G>T
ENST00000683270.1:c.2902G>T	ENSP00000507624.1:p.Asp968Tyr
ENST00000683367.1:c.2177-11481G>T	ENSP00000507780.1:n.2177-11481G>T
ENST00000683489.1:c.2291+620G>T	ENSP00000508403.1:n.2291+620G>T
ENST00000683680.1:c.2318+620G>T	ENSP00000507223.1:n.2318+620G>T
ENST00000684163.1:c.2203+5846G>T	ENSP00000508262.1:n.2203+5846G>T
ENST00000684196.1:n.4543-11481G>T
ENST00000684325.1:c.2185+12820G>T	ENSP00000508121.1:n.2185+12820G>T
ENST00000684385.1:c.2220+5846G>T	ENSP00000507855.1:n.2220+5846G>T
ENST00000684497.1:c.2185+12820G>T	ENSP00000507057.1:n.2185+12820G>T
ENST00000382292.9:c.2911G>T MANE Select	ENSP00000371729.3:p.Asp971Tyr
ENST00000423156.2:c.2186-11481G>T	ENSP00000390925.2:n.2186-11481G>T
ENST00000455470.6:c.2431+480G>T	ENSP00000406565.2:n.2431+480G>T
ENST00000382292.7:c.2911G>T	ENSP00000371729.3:p.Asp971Tyr
ENST00000382298.7:c.2911G>T	ENSP00000371735.3:p.Asp971Tyr
ENST00000402364.1:c.661G>T	ENSP00000385844.1:p.Asp221Tyr
ENST00000423156.1:c.1058-11481G>T	ENSP00000390925.1:n.1058-11481G>T
ENST00000455470.5:c.2129+480G>T
NM_001278055.1:c.2470G>T	NP_001264984.1:p.Asp824Tyr
NM_014363.5:c.2911G>T	NP_055178.3:p.Asp971Tyr
XM_005266338.1:c.2938G>T	XP_005266395.1:p.Asp980Tyr
XM_011535038.1:c.2962G>T	XP_011533340.1:p.Asp988Tyr
XM_011535039.1:c.2929G>T	XP_011533341.1:p.Asp977Tyr
XM_005266338.2:c.2938G>T	XP_005266395.1:p.Asp980Tyr
XM_011535039.2:c.2929G>T	XP_011533341.1:p.Asp977Tyr
XM_017020539.1:c.2902G>T	XP_016876028.1:p.Asp968Tyr
XM_024449337.1:c.2938G>T	XP_024305105.1:p.Asp980Tyr
NM_014363.6:c.2911G>T MANE Select	NP_055178.3:p.Asp971Tyr
NM_001278055.2:c.2470G>T	NP_001264984.1:p.Asp824Tyr