Canonical Allele Identifier: CA387504663

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904312A>G (hg19) ; chr13:g.23330173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330173A>G , CM000675.2:g.23330173A>G	GRCh38
NC_000013.10:g.23904312A>G , CM000675.1:g.23904312A>G	GRCh37
NC_000013.9:g.22802312A>G	NCBI36
NG_012342.1:g.108530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18058T>C	ENSP00000508399.1:n.2186-18058T>C
ENST00000682944.1:c.13730T>C	ENSP00000507173.1:p.Ile4577Thr
ENST00000683210.1:c.2185+23612T>C	ENSP00000506739.1:n.2185+23612T>C
ENST00000683270.1:c.6446-689T>C	ENSP00000507624.1:n.6446-689T>C
ENST00000683367.1:c.2177-689T>C	ENSP00000507780.1:n.2177-689T>C
ENST00000683489.1:c.2292-221T>C	ENSP00000508403.1:n.2292-221T>C
ENST00000683680.1:c.2319-221T>C	ENSP00000507223.1:n.2319-221T>C
ENST00000684163.1:c.2204-689T>C	ENSP00000508262.1:n.2204-689T>C
ENST00000684196.1:n.4543-689T>C
ENST00000684325.1:c.2186-8499T>C	ENSP00000508121.1:n.2186-8499T>C
ENST00000684385.1:c.2221-689T>C	ENSP00000507855.1:n.2221-689T>C
ENST00000684497.1:c.2186-7529T>C	ENSP00000507057.1:n.2186-7529T>C
ENST00000382292.9:c.13703T>C MANE Select	ENSP00000371729.3:p.Ile4568Thr
ENST00000423156.2:c.2186-689T>C	ENSP00000390925.2:n.2186-689T>C
ENST00000455470.6:c.2432-689T>C	ENSP00000406565.2:n.2432-689T>C
ENST00000382292.7:c.13703T>C	ENSP00000371729.3:p.Ile4568Thr
ENST00000382298.7:c.13703T>C	ENSP00000371735.3:p.Ile4568Thr
ENST00000402364.1:c.11453T>C	ENSP00000385844.1:p.Ile3818Thr
ENST00000423156.1:c.1058-689T>C	ENSP00000390925.1:n.1058-689T>C
ENST00000455470.5:c.2130-689T>C
NM_001278055.1:c.13262T>C	NP_001264984.1:p.Ile4421Thr
NM_014363.5:c.13703T>C	NP_055178.3:p.Ile4568Thr
XM_005266338.1:c.13730T>C	XP_005266395.1:p.Ile4577Thr
XM_011535038.1:c.13754T>C	XP_011533340.1:p.Ile4585Thr
XM_011535039.1:c.13721T>C	XP_011533341.1:p.Ile4574Thr
XM_005266338.2:c.13730T>C	XP_005266395.1:p.Ile4577Thr
XM_011535039.2:c.13721T>C	XP_011533341.1:p.Ile4574Thr
XM_017020539.1:c.13694T>C	XP_016876028.1:p.Ile4565Thr
XM_024449337.1:c.13730T>C	XP_024305105.1:p.Ile4577Thr
NM_014363.6:c.13703T>C MANE Select	NP_055178.3:p.Ile4568Thr
NM_001278055.2:c.13262T>C	NP_001264984.1:p.Ile4421Thr