Canonical Allele Identifier: CA387525447

Gene: SACS

Linked Data

• gnomAD v4: 13-23338336-C-A
• MyVariant Identifiers: chr13:g.23912475C>A (hg19) ; chr13:g.23338336C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338336C>A , CM000675.2:g.23338336C>A	GRCh38
NC_000013.10:g.23912475C>A , CM000675.1:g.23912475C>A	GRCh37
NC_000013.9:g.22810475C>A	NCBI36
NG_012342.1:g.100367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15449G>T	ENSP00000508399.1:n.2185+15449G>T
ENST00000682944.1:c.5567G>T	ENSP00000507173.1:p.Gly1856Val
ENST00000683210.1:c.2185+15449G>T	ENSP00000506739.1:n.2185+15449G>T
ENST00000683270.1:c.5531G>T	ENSP00000507624.1:p.Gly1844Val
ENST00000683367.1:c.2177-8852G>T	ENSP00000507780.1:n.2177-8852G>T
ENST00000683489.1:c.2291+3249G>T	ENSP00000508403.1:n.2291+3249G>T
ENST00000683680.1:c.2318+3249G>T	ENSP00000507223.1:n.2318+3249G>T
ENST00000684163.1:c.2203+8475G>T	ENSP00000508262.1:n.2203+8475G>T
ENST00000684196.1:n.4543-8852G>T
ENST00000684325.1:c.2185+15449G>T	ENSP00000508121.1:n.2185+15449G>T
ENST00000684385.1:c.2220+8475G>T	ENSP00000507855.1:n.2220+8475G>T
ENST00000684497.1:c.2185+15449G>T	ENSP00000507057.1:n.2185+15449G>T
ENST00000382292.9:c.5540G>T MANE Select	ENSP00000371729.3:p.Gly1847Val
ENST00000423156.2:c.2186-8852G>T	ENSP00000390925.2:n.2186-8852G>T
ENST00000455470.6:c.2431+3109G>T	ENSP00000406565.2:n.2431+3109G>T
ENST00000382292.7:c.5540G>T	ENSP00000371729.3:p.Gly1847Val
ENST00000382298.7:c.5540G>T	ENSP00000371735.3:p.Gly1847Val
ENST00000402364.1:c.3290G>T	ENSP00000385844.1:p.Gly1097Val
ENST00000423156.1:c.1058-8852G>T	ENSP00000390925.1:n.1058-8852G>T
ENST00000455470.5:c.2129+3109G>T
NM_001278055.1:c.5099G>T	NP_001264984.1:p.Gly1700Val
NM_014363.5:c.5540G>T	NP_055178.3:p.Gly1847Val
XM_005266338.1:c.5567G>T	XP_005266395.1:p.Gly1856Val
XM_011535038.1:c.5591G>T	XP_011533340.1:p.Gly1864Val
XM_011535039.1:c.5558G>T	XP_011533341.1:p.Gly1853Val
XM_005266338.2:c.5567G>T	XP_005266395.1:p.Gly1856Val
XM_011535039.2:c.5558G>T	XP_011533341.1:p.Gly1853Val
XM_017020539.1:c.5531G>T	XP_016876028.1:p.Gly1844Val
XM_024449337.1:c.5567G>T	XP_024305105.1:p.Gly1856Val
NM_014363.6:c.5540G>T MANE Select	NP_055178.3:p.Gly1847Val
NM_001278055.2:c.5099G>T	NP_001264984.1:p.Gly1700Val