Canonical Allele Identifier: CA387515752

Gene: SACS

Linked Data

• dbSNP Id: rs1327555974
• gnomAD v2: 13-23909175-G-T
• MyVariant Identifiers: chr13:g.23909175G>T (hg19) ; chr13:g.23335036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335036G>T , CM000675.2:g.23335036G>T	GRCh38
NC_000013.10:g.23909175G>T , CM000675.1:g.23909175G>T	GRCh37
NC_000013.9:g.22807175G>T	NCBI36
NG_012342.1:g.103667C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+18749C>A	ENSP00000508399.1:n.2185+18749C>A
ENST00000682944.1:c.8867C>A	ENSP00000507173.1:p.Thr2956Asn
ENST00000683210.1:c.2185+18749C>A	ENSP00000506739.1:n.2185+18749C>A
ENST00000683270.1:c.6445+2386C>A	ENSP00000507624.1:n.6445+2386C>A
ENST00000683367.1:c.2177-5552C>A	ENSP00000507780.1:n.2177-5552C>A
ENST00000683489.1:c.2292-5084C>A	ENSP00000508403.1:n.2292-5084C>A
ENST00000683680.1:c.2319-5084C>A	ENSP00000507223.1:n.2319-5084C>A
ENST00000684163.1:c.2204-5552C>A	ENSP00000508262.1:n.2204-5552C>A
ENST00000684196.1:n.4543-5552C>A
ENST00000684325.1:c.2186-13362C>A	ENSP00000508121.1:n.2186-13362C>A
ENST00000684385.1:c.2221-5552C>A	ENSP00000507855.1:n.2221-5552C>A
ENST00000684497.1:c.2186-12392C>A	ENSP00000507057.1:n.2186-12392C>A
ENST00000382292.9:c.8840C>A MANE Select	ENSP00000371729.3:p.Thr2947Asn
ENST00000423156.2:c.2186-5552C>A	ENSP00000390925.2:n.2186-5552C>A
ENST00000455470.6:c.2432-5552C>A	ENSP00000406565.2:n.2432-5552C>A
ENST00000382292.7:c.8840C>A	ENSP00000371729.3:p.Thr2947Asn
ENST00000382298.7:c.8840C>A	ENSP00000371735.3:p.Thr2947Asn
ENST00000402364.1:c.6590C>A	ENSP00000385844.1:p.Thr2197Asn
ENST00000423156.1:c.1058-5552C>A	ENSP00000390925.1:n.1058-5552C>A
ENST00000455470.5:c.2130-5552C>A
NM_001278055.1:c.8399C>A	NP_001264984.1:p.Thr2800Asn
NM_014363.5:c.8840C>A	NP_055178.3:p.Thr2947Asn
XM_005266338.1:c.8867C>A	XP_005266395.1:p.Thr2956Asn
XM_011535038.1:c.8891C>A	XP_011533340.1:p.Thr2964Asn
XM_011535039.1:c.8858C>A	XP_011533341.1:p.Thr2953Asn
XM_005266338.2:c.8867C>A	XP_005266395.1:p.Thr2956Asn
XM_011535039.2:c.8858C>A	XP_011533341.1:p.Thr2953Asn
XM_017020539.1:c.8831C>A	XP_016876028.1:p.Thr2944Asn
XM_024449337.1:c.8867C>A	XP_024305105.1:p.Thr2956Asn
NM_014363.6:c.8840C>A MANE Select	NP_055178.3:p.Thr2947Asn
NM_001278055.2:c.8399C>A	NP_001264984.1:p.Thr2800Asn