Canonical Allele Identifier: CA387525895

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912681C>A (hg19) ; chr13:g.23338542C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338542C>A , CM000675.2:g.23338542C>A	GRCh38
NC_000013.10:g.23912681C>A , CM000675.1:g.23912681C>A	GRCh37
NC_000013.9:g.22810681C>A	NCBI36
NG_012342.1:g.100161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15243G>T	ENSP00000508399.1:n.2185+15243G>T
ENST00000682944.1:c.5361G>T	ENSP00000507173.1:p.Gln1787His
ENST00000683210.1:c.2185+15243G>T	ENSP00000506739.1:n.2185+15243G>T
ENST00000683270.1:c.5325G>T	ENSP00000507624.1:p.Gln1775His
ENST00000683367.1:c.2177-9058G>T	ENSP00000507780.1:n.2177-9058G>T
ENST00000683489.1:c.2291+3043G>T	ENSP00000508403.1:n.2291+3043G>T
ENST00000683680.1:c.2318+3043G>T	ENSP00000507223.1:n.2318+3043G>T
ENST00000684163.1:c.2203+8269G>T	ENSP00000508262.1:n.2203+8269G>T
ENST00000684196.1:n.4543-9058G>T
ENST00000684325.1:c.2185+15243G>T	ENSP00000508121.1:n.2185+15243G>T
ENST00000684385.1:c.2220+8269G>T	ENSP00000507855.1:n.2220+8269G>T
ENST00000684497.1:c.2185+15243G>T	ENSP00000507057.1:n.2185+15243G>T
ENST00000382292.9:c.5334G>T MANE Select	ENSP00000371729.3:p.Gln1778His
ENST00000423156.2:c.2186-9058G>T	ENSP00000390925.2:n.2186-9058G>T
ENST00000455470.6:c.2431+2903G>T	ENSP00000406565.2:n.2431+2903G>T
ENST00000382292.7:c.5334G>T	ENSP00000371729.3:p.Gln1778His
ENST00000382298.7:c.5334G>T	ENSP00000371735.3:p.Gln1778His
ENST00000402364.1:c.3084G>T	ENSP00000385844.1:p.Gln1028His
ENST00000423156.1:c.1058-9058G>T	ENSP00000390925.1:n.1058-9058G>T
ENST00000455470.5:c.2129+2903G>T
NM_001278055.1:c.4893G>T	NP_001264984.1:p.Gln1631His
NM_014363.5:c.5334G>T	NP_055178.3:p.Gln1778His
XM_005266338.1:c.5361G>T	XP_005266395.1:p.Gln1787His
XM_011535038.1:c.5385G>T	XP_011533340.1:p.Gln1795His
XM_011535039.1:c.5352G>T	XP_011533341.1:p.Gln1784His
XM_005266338.2:c.5361G>T	XP_005266395.1:p.Gln1787His
XM_011535039.2:c.5352G>T	XP_011533341.1:p.Gln1784His
XM_017020539.1:c.5325G>T	XP_016876028.1:p.Gln1775His
XM_024449337.1:c.5361G>T	XP_024305105.1:p.Gln1787His
NM_014363.6:c.5334G>T MANE Select	NP_055178.3:p.Gln1778His
NM_001278055.2:c.4893G>T	NP_001264984.1:p.Gln1631His