Canonical Allele Identifier: CA387525201

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912373C>A (hg19) ; chr13:g.23338234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338234C>A , CM000675.2:g.23338234C>A	GRCh38
NC_000013.10:g.23912373C>A , CM000675.1:g.23912373C>A	GRCh37
NC_000013.9:g.22810373C>A	NCBI36
NG_012342.1:g.100469G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15551G>T	ENSP00000508399.1:n.2185+15551G>T
ENST00000682944.1:c.5669G>T	ENSP00000507173.1:p.Gly1890Val
ENST00000683210.1:c.2185+15551G>T	ENSP00000506739.1:n.2185+15551G>T
ENST00000683270.1:c.5633G>T	ENSP00000507624.1:p.Gly1878Val
ENST00000683367.1:c.2177-8750G>T	ENSP00000507780.1:n.2177-8750G>T
ENST00000683489.1:c.2291+3351G>T	ENSP00000508403.1:n.2291+3351G>T
ENST00000683680.1:c.2318+3351G>T	ENSP00000507223.1:n.2318+3351G>T
ENST00000684163.1:c.2203+8577G>T	ENSP00000508262.1:n.2203+8577G>T
ENST00000684196.1:n.4543-8750G>T
ENST00000684325.1:c.2185+15551G>T	ENSP00000508121.1:n.2185+15551G>T
ENST00000684385.1:c.2220+8577G>T	ENSP00000507855.1:n.2220+8577G>T
ENST00000684497.1:c.2185+15551G>T	ENSP00000507057.1:n.2185+15551G>T
ENST00000382292.9:c.5642G>T MANE Select	ENSP00000371729.3:p.Gly1881Val
ENST00000423156.2:c.2186-8750G>T	ENSP00000390925.2:n.2186-8750G>T
ENST00000455470.6:c.2431+3211G>T	ENSP00000406565.2:n.2431+3211G>T
ENST00000382292.7:c.5642G>T	ENSP00000371729.3:p.Gly1881Val
ENST00000382298.7:c.5642G>T	ENSP00000371735.3:p.Gly1881Val
ENST00000402364.1:c.3392G>T	ENSP00000385844.1:p.Gly1131Val
ENST00000423156.1:c.1058-8750G>T	ENSP00000390925.1:n.1058-8750G>T
ENST00000455470.5:c.2129+3211G>T
NM_001278055.1:c.5201G>T	NP_001264984.1:p.Gly1734Val
NM_014363.5:c.5642G>T	NP_055178.3:p.Gly1881Val
XM_005266338.1:c.5669G>T	XP_005266395.1:p.Gly1890Val
XM_011535038.1:c.5693G>T	XP_011533340.1:p.Gly1898Val
XM_011535039.1:c.5660G>T	XP_011533341.1:p.Gly1887Val
XM_005266338.2:c.5669G>T	XP_005266395.1:p.Gly1890Val
XM_011535039.2:c.5660G>T	XP_011533341.1:p.Gly1887Val
XM_017020539.1:c.5633G>T	XP_016876028.1:p.Gly1878Val
XM_024449337.1:c.5669G>T	XP_024305105.1:p.Gly1890Val
NM_014363.6:c.5642G>T MANE Select	NP_055178.3:p.Gly1881Val
NM_001278055.2:c.5201G>T	NP_001264984.1:p.Gly1734Val