Canonical Allele Identifier: CA387512274

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907604C>A (hg19) ; chr13:g.23333465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333465C>A , CM000675.2:g.23333465C>A	GRCh38
NC_000013.10:g.23907604C>A , CM000675.1:g.23907604C>A	GRCh37
NC_000013.9:g.22805604C>A	NCBI36
NG_012342.1:g.105238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20320G>T	ENSP00000508399.1:n.2185+20320G>T
ENST00000682944.1:c.10438G>T	ENSP00000507173.1:p.Val3480Leu
ENST00000683210.1:c.2185+20320G>T	ENSP00000506739.1:n.2185+20320G>T
ENST00000683270.1:c.6445+3957G>T	ENSP00000507624.1:n.6445+3957G>T
ENST00000683367.1:c.2177-3981G>T	ENSP00000507780.1:n.2177-3981G>T
ENST00000683489.1:c.2292-3513G>T	ENSP00000508403.1:n.2292-3513G>T
ENST00000683680.1:c.2319-3513G>T	ENSP00000507223.1:n.2319-3513G>T
ENST00000684163.1:c.2204-3981G>T	ENSP00000508262.1:n.2204-3981G>T
ENST00000684196.1:n.4543-3981G>T
ENST00000684325.1:c.2186-11791G>T	ENSP00000508121.1:n.2186-11791G>T
ENST00000684385.1:c.2221-3981G>T	ENSP00000507855.1:n.2221-3981G>T
ENST00000684497.1:c.2186-10821G>T	ENSP00000507057.1:n.2186-10821G>T
ENST00000382292.9:c.10411G>T MANE Select	ENSP00000371729.3:p.Val3471Leu
ENST00000423156.2:c.2186-3981G>T	ENSP00000390925.2:n.2186-3981G>T
ENST00000455470.6:c.2432-3981G>T	ENSP00000406565.2:n.2432-3981G>T
ENST00000382292.7:c.10411G>T	ENSP00000371729.3:p.Val3471Leu
ENST00000382298.7:c.10411G>T	ENSP00000371735.3:p.Val3471Leu
ENST00000402364.1:c.8161G>T	ENSP00000385844.1:p.Val2721Leu
ENST00000423156.1:c.1058-3981G>T	ENSP00000390925.1:n.1058-3981G>T
ENST00000455470.5:c.2130-3981G>T
NM_001278055.1:c.9970G>T	NP_001264984.1:p.Val3324Leu
NM_014363.5:c.10411G>T	NP_055178.3:p.Val3471Leu
XM_005266338.1:c.10438G>T	XP_005266395.1:p.Val3480Leu
XM_011535038.1:c.10462G>T	XP_011533340.1:p.Val3488Leu
XM_011535039.1:c.10429G>T	XP_011533341.1:p.Val3477Leu
XM_005266338.2:c.10438G>T	XP_005266395.1:p.Val3480Leu
XM_011535039.2:c.10429G>T	XP_011533341.1:p.Val3477Leu
XM_017020539.1:c.10402G>T	XP_016876028.1:p.Val3468Leu
XM_024449337.1:c.10438G>T	XP_024305105.1:p.Val3480Leu
NM_014363.6:c.10411G>T MANE Select	NP_055178.3:p.Val3471Leu
NM_001278055.2:c.9970G>T	NP_001264984.1:p.Val3324Leu