Canonical Allele Identifier: CA387513008

Gene: SACS

Linked Data

• dbSNP Id: rs1883646678
• gnomAD v4: 13-23333794-A-G
• MyVariant Identifiers: chr13:g.23907933A>G (hg19) ; chr13:g.23333794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333794A>G , CM000675.2:g.23333794A>G	GRCh38
NC_000013.10:g.23907933A>G , CM000675.1:g.23907933A>G	GRCh37
NC_000013.9:g.22805933A>G	NCBI36
NG_012342.1:g.104909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19991T>C	ENSP00000508399.1:n.2185+19991T>C
ENST00000682944.1:c.10109T>C	ENSP00000507173.1:p.Ile3370Thr
ENST00000683210.1:c.2185+19991T>C	ENSP00000506739.1:n.2185+19991T>C
ENST00000683270.1:c.6445+3628T>C	ENSP00000507624.1:n.6445+3628T>C
ENST00000683367.1:c.2177-4310T>C	ENSP00000507780.1:n.2177-4310T>C
ENST00000683489.1:c.2292-3842T>C	ENSP00000508403.1:n.2292-3842T>C
ENST00000683680.1:c.2319-3842T>C	ENSP00000507223.1:n.2319-3842T>C
ENST00000684163.1:c.2204-4310T>C	ENSP00000508262.1:n.2204-4310T>C
ENST00000684196.1:n.4543-4310T>C
ENST00000684325.1:c.2186-12120T>C	ENSP00000508121.1:n.2186-12120T>C
ENST00000684385.1:c.2221-4310T>C	ENSP00000507855.1:n.2221-4310T>C
ENST00000684497.1:c.2186-11150T>C	ENSP00000507057.1:n.2186-11150T>C
ENST00000382292.9:c.10082T>C MANE Select	ENSP00000371729.3:p.Ile3361Thr
ENST00000423156.2:c.2186-4310T>C	ENSP00000390925.2:n.2186-4310T>C
ENST00000455470.6:c.2432-4310T>C	ENSP00000406565.2:n.2432-4310T>C
ENST00000382292.7:c.10082T>C	ENSP00000371729.3:p.Ile3361Thr
ENST00000382298.7:c.10082T>C	ENSP00000371735.3:p.Ile3361Thr
ENST00000402364.1:c.7832T>C	ENSP00000385844.1:p.Ile2611Thr
ENST00000423156.1:c.1058-4310T>C	ENSP00000390925.1:n.1058-4310T>C
ENST00000455470.5:c.2130-4310T>C
NM_001278055.1:c.9641T>C	NP_001264984.1:p.Ile3214Thr
NM_014363.5:c.10082T>C	NP_055178.3:p.Ile3361Thr
XM_005266338.1:c.10109T>C	XP_005266395.1:p.Ile3370Thr
XM_011535038.1:c.10133T>C	XP_011533340.1:p.Ile3378Thr
XM_011535039.1:c.10100T>C	XP_011533341.1:p.Ile3367Thr
XM_005266338.2:c.10109T>C	XP_005266395.1:p.Ile3370Thr
XM_011535039.2:c.10100T>C	XP_011533341.1:p.Ile3367Thr
XM_017020539.1:c.10073T>C	XP_016876028.1:p.Ile3358Thr
XM_024449337.1:c.10109T>C	XP_024305105.1:p.Ile3370Thr
NM_014363.6:c.10082T>C MANE Select	NP_055178.3:p.Ile3361Thr
NM_001278055.2:c.9641T>C	NP_001264984.1:p.Ile3214Thr