Canonical Allele Identifier: CA387513642

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908225T>G (hg19) ; chr13:g.23334086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334086T>G , CM000675.2:g.23334086T>G	GRCh38
NC_000013.10:g.23908225T>G , CM000675.1:g.23908225T>G	GRCh37
NC_000013.9:g.22806225T>G	NCBI36
NG_012342.1:g.104617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19699A>C	ENSP00000508399.1:n.2185+19699A>C
ENST00000682944.1:c.9817A>C	ENSP00000507173.1:p.Thr3273Pro
ENST00000683210.1:c.2185+19699A>C	ENSP00000506739.1:n.2185+19699A>C
ENST00000683270.1:c.6445+3336A>C	ENSP00000507624.1:n.6445+3336A>C
ENST00000683367.1:c.2177-4602A>C	ENSP00000507780.1:n.2177-4602A>C
ENST00000683489.1:c.2292-4134A>C	ENSP00000508403.1:n.2292-4134A>C
ENST00000683680.1:c.2319-4134A>C	ENSP00000507223.1:n.2319-4134A>C
ENST00000684163.1:c.2204-4602A>C	ENSP00000508262.1:n.2204-4602A>C
ENST00000684196.1:n.4543-4602A>C
ENST00000684325.1:c.2186-12412A>C	ENSP00000508121.1:n.2186-12412A>C
ENST00000684385.1:c.2221-4602A>C	ENSP00000507855.1:n.2221-4602A>C
ENST00000684497.1:c.2186-11442A>C	ENSP00000507057.1:n.2186-11442A>C
ENST00000382292.9:c.9790A>C MANE Select	ENSP00000371729.3:p.Thr3264Pro
ENST00000423156.2:c.2186-4602A>C	ENSP00000390925.2:n.2186-4602A>C
ENST00000455470.6:c.2432-4602A>C	ENSP00000406565.2:n.2432-4602A>C
ENST00000382292.7:c.9790A>C	ENSP00000371729.3:p.Thr3264Pro
ENST00000382298.7:c.9790A>C	ENSP00000371735.3:p.Thr3264Pro
ENST00000402364.1:c.7540A>C	ENSP00000385844.1:p.Thr2514Pro
ENST00000423156.1:c.1058-4602A>C	ENSP00000390925.1:n.1058-4602A>C
ENST00000455470.5:c.2130-4602A>C
NM_001278055.1:c.9349A>C	NP_001264984.1:p.Thr3117Pro
NM_014363.5:c.9790A>C	NP_055178.3:p.Thr3264Pro
XM_005266338.1:c.9817A>C	XP_005266395.1:p.Thr3273Pro
XM_011535038.1:c.9841A>C	XP_011533340.1:p.Thr3281Pro
XM_011535039.1:c.9808A>C	XP_011533341.1:p.Thr3270Pro
XM_005266338.2:c.9817A>C	XP_005266395.1:p.Thr3273Pro
XM_011535039.2:c.9808A>C	XP_011533341.1:p.Thr3270Pro
XM_017020539.1:c.9781A>C	XP_016876028.1:p.Thr3261Pro
XM_024449337.1:c.9817A>C	XP_024305105.1:p.Thr3273Pro
NM_014363.6:c.9790A>C MANE Select	NP_055178.3:p.Thr3264Pro
NM_001278055.2:c.9349A>C	NP_001264984.1:p.Thr3117Pro