Canonical Allele Identifier: CA6910044

Gene: SACS

Linked Data

• dbSNP Id: rs763698356
• ExAC: 13:23905066 C / T
• gnomAD v2: 13-23905066-C-T
• gnomAD v4: 13-23330927-C-T
• MyVariant Identifiers: chr13:g.23905066C>T (hg19) ; chr13:g.23330927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330927C>T , CM000675.2:g.23330927C>T	GRCh38
NC_000013.10:g.23905066C>T , CM000675.1:g.23905066C>T	GRCh37
NC_000013.9:g.22803066C>T	NCBI36
NG_012342.1:g.107776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18812G>A	ENSP00000508399.1:n.2186-18812G>A
ENST00000682944.1:c.12976G>A	ENSP00000507173.1:p.Ala4326Thr
ENST00000683210.1:c.2185+22858G>A	ENSP00000506739.1:n.2185+22858G>A
ENST00000683270.1:c.6446-1443G>A	ENSP00000507624.1:n.6446-1443G>A
ENST00000683367.1:c.2177-1443G>A	ENSP00000507780.1:n.2177-1443G>A
ENST00000683489.1:c.2292-975G>A	ENSP00000508403.1:n.2292-975G>A
ENST00000683680.1:c.2319-975G>A	ENSP00000507223.1:n.2319-975G>A
ENST00000684163.1:c.2204-1443G>A	ENSP00000508262.1:n.2204-1443G>A
ENST00000684196.1:n.4543-1443G>A
ENST00000684325.1:c.2186-9253G>A	ENSP00000508121.1:n.2186-9253G>A
ENST00000684385.1:c.2221-1443G>A	ENSP00000507855.1:n.2221-1443G>A
ENST00000684497.1:c.2186-8283G>A	ENSP00000507057.1:n.2186-8283G>A
ENST00000382292.9:c.12949G>A MANE Select	ENSP00000371729.3:p.Ala4317Thr
ENST00000423156.2:c.2186-1443G>A	ENSP00000390925.2:n.2186-1443G>A
ENST00000455470.6:c.2432-1443G>A	ENSP00000406565.2:n.2432-1443G>A
ENST00000382292.7:c.12949G>A	ENSP00000371729.3:p.Ala4317Thr
ENST00000382298.7:c.12949G>A	ENSP00000371735.3:p.Ala4317Thr
ENST00000402364.1:c.10699G>A	ENSP00000385844.1:p.Ala3567Thr
ENST00000423156.1:c.1058-1443G>A	ENSP00000390925.1:n.1058-1443G>A
ENST00000455470.5:c.2130-1443G>A
NM_001278055.1:c.12508G>A	NP_001264984.1:p.Ala4170Thr
NM_014363.5:c.12949G>A	NP_055178.3:p.Ala4317Thr
XM_005266338.1:c.12976G>A	XP_005266395.1:p.Ala4326Thr
XM_011535038.1:c.13000G>A	XP_011533340.1:p.Ala4334Thr
XM_011535039.1:c.12967G>A	XP_011533341.1:p.Ala4323Thr
XM_005266338.2:c.12976G>A	XP_005266395.1:p.Ala4326Thr
XM_011535039.2:c.12967G>A	XP_011533341.1:p.Ala4323Thr
XM_017020539.1:c.12940G>A	XP_016876028.1:p.Ala4314Thr
XM_024449337.1:c.12976G>A	XP_024305105.1:p.Ala4326Thr
NM_014363.6:c.12949G>A MANE Select	NP_055178.3:p.Ala4317Thr
NM_001278055.2:c.12508G>A	NP_001264984.1:p.Ala4170Thr