Canonical Allele Identifier: CA387515827

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909212G>T (hg19) ; chr13:g.23335073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335073G>T , CM000675.2:g.23335073G>T	GRCh38
NC_000013.10:g.23909212G>T , CM000675.1:g.23909212G>T	GRCh37
NC_000013.9:g.22807212G>T	NCBI36
NG_012342.1:g.103630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18712C>A	ENSP00000508399.1:n.2185+18712C>A
ENST00000682944.1:c.8830C>A	ENSP00000507173.1:p.Pro2944Thr
ENST00000683210.1:c.2185+18712C>A	ENSP00000506739.1:n.2185+18712C>A
ENST00000683270.1:c.6445+2349C>A	ENSP00000507624.1:n.6445+2349C>A
ENST00000683367.1:c.2177-5589C>A	ENSP00000507780.1:n.2177-5589C>A
ENST00000683489.1:c.2292-5121C>A	ENSP00000508403.1:n.2292-5121C>A
ENST00000683680.1:c.2319-5121C>A	ENSP00000507223.1:n.2319-5121C>A
ENST00000684163.1:c.2204-5589C>A	ENSP00000508262.1:n.2204-5589C>A
ENST00000684196.1:n.4543-5589C>A
ENST00000684325.1:c.2186-13399C>A	ENSP00000508121.1:n.2186-13399C>A
ENST00000684385.1:c.2221-5589C>A	ENSP00000507855.1:n.2221-5589C>A
ENST00000684497.1:c.2186-12429C>A	ENSP00000507057.1:n.2186-12429C>A
ENST00000382292.9:c.8803C>A MANE Select	ENSP00000371729.3:p.Pro2935Thr
ENST00000423156.2:c.2186-5589C>A	ENSP00000390925.2:n.2186-5589C>A
ENST00000455470.6:c.2432-5589C>A	ENSP00000406565.2:n.2432-5589C>A
ENST00000382292.7:c.8803C>A	ENSP00000371729.3:p.Pro2935Thr
ENST00000382298.7:c.8803C>A	ENSP00000371735.3:p.Pro2935Thr
ENST00000402364.1:c.6553C>A	ENSP00000385844.1:p.Pro2185Thr
ENST00000423156.1:c.1058-5589C>A	ENSP00000390925.1:n.1058-5589C>A
ENST00000455470.5:c.2130-5589C>A
NM_001278055.1:c.8362C>A	NP_001264984.1:p.Pro2788Thr
NM_014363.5:c.8803C>A	NP_055178.3:p.Pro2935Thr
XM_005266338.1:c.8830C>A	XP_005266395.1:p.Pro2944Thr
XM_011535038.1:c.8854C>A	XP_011533340.1:p.Pro2952Thr
XM_011535039.1:c.8821C>A	XP_011533341.1:p.Pro2941Thr
XM_005266338.2:c.8830C>A	XP_005266395.1:p.Pro2944Thr
XM_011535039.2:c.8821C>A	XP_011533341.1:p.Pro2941Thr
XM_017020539.1:c.8794C>A	XP_016876028.1:p.Pro2932Thr
XM_024449337.1:c.8830C>A	XP_024305105.1:p.Pro2944Thr
NM_014363.6:c.8803C>A MANE Select	NP_055178.3:p.Pro2935Thr
NM_001278055.2:c.8362C>A	NP_001264984.1:p.Pro2788Thr