Canonical Allele Identifier: CA387525487

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912495T>A (hg19) ; chr13:g.23338356T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338356T>A , CM000675.2:g.23338356T>A	GRCh38
NC_000013.10:g.23912495T>A , CM000675.1:g.23912495T>A	GRCh37
NC_000013.9:g.22810495T>A	NCBI36
NG_012342.1:g.100347A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15429A>T	ENSP00000508399.1:n.2185+15429A>T
ENST00000682944.1:c.5547A>T	ENSP00000507173.1:p.Arg1849Ser
ENST00000683210.1:c.2185+15429A>T	ENSP00000506739.1:n.2185+15429A>T
ENST00000683270.1:c.5511A>T	ENSP00000507624.1:p.Arg1837Ser
ENST00000683367.1:c.2177-8872A>T	ENSP00000507780.1:n.2177-8872A>T
ENST00000683489.1:c.2291+3229A>T	ENSP00000508403.1:n.2291+3229A>T
ENST00000683680.1:c.2318+3229A>T	ENSP00000507223.1:n.2318+3229A>T
ENST00000684163.1:c.2203+8455A>T	ENSP00000508262.1:n.2203+8455A>T
ENST00000684196.1:n.4543-8872A>T
ENST00000684325.1:c.2185+15429A>T	ENSP00000508121.1:n.2185+15429A>T
ENST00000684385.1:c.2220+8455A>T	ENSP00000507855.1:n.2220+8455A>T
ENST00000684497.1:c.2185+15429A>T	ENSP00000507057.1:n.2185+15429A>T
ENST00000382292.9:c.5520A>T MANE Select	ENSP00000371729.3:p.Arg1840Ser
ENST00000423156.2:c.2186-8872A>T	ENSP00000390925.2:n.2186-8872A>T
ENST00000455470.6:c.2431+3089A>T	ENSP00000406565.2:n.2431+3089A>T
ENST00000382292.7:c.5520A>T	ENSP00000371729.3:p.Arg1840Ser
ENST00000382298.7:c.5520A>T	ENSP00000371735.3:p.Arg1840Ser
ENST00000402364.1:c.3270A>T	ENSP00000385844.1:p.Arg1090Ser
ENST00000423156.1:c.1058-8872A>T	ENSP00000390925.1:n.1058-8872A>T
ENST00000455470.5:c.2129+3089A>T
NM_001278055.1:c.5079A>T	NP_001264984.1:p.Arg1693Ser
NM_014363.5:c.5520A>T	NP_055178.3:p.Arg1840Ser
XM_005266338.1:c.5547A>T	XP_005266395.1:p.Arg1849Ser
XM_011535038.1:c.5571A>T	XP_011533340.1:p.Arg1857Ser
XM_011535039.1:c.5538A>T	XP_011533341.1:p.Arg1846Ser
XM_005266338.2:c.5547A>T	XP_005266395.1:p.Arg1849Ser
XM_011535039.2:c.5538A>T	XP_011533341.1:p.Arg1846Ser
XM_017020539.1:c.5511A>T	XP_016876028.1:p.Arg1837Ser
XM_024449337.1:c.5547A>T	XP_024305105.1:p.Arg1849Ser
NM_014363.6:c.5520A>T MANE Select	NP_055178.3:p.Arg1840Ser
NM_001278055.2:c.5079A>T	NP_001264984.1:p.Arg1693Ser