Canonical Allele Identifier: CA387504904

Gene: SACS

Linked Data

• gnomAD v4: 13-23330278-C-A
• MyVariant Identifiers: chr13:g.23904417C>A (hg19) ; chr13:g.23330278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330278C>A , CM000675.2:g.23330278C>A	GRCh38
NC_000013.10:g.23904417C>A , CM000675.1:g.23904417C>A	GRCh37
NC_000013.9:g.22802417C>A	NCBI36
NG_012342.1:g.108425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18163G>T	ENSP00000508399.1:n.2186-18163G>T
ENST00000682944.1:c.13625G>T	ENSP00000507173.1:p.Ser4542Ile
ENST00000683210.1:c.2185+23507G>T	ENSP00000506739.1:n.2185+23507G>T
ENST00000683270.1:c.6446-794G>T	ENSP00000507624.1:n.6446-794G>T
ENST00000683367.1:c.2177-794G>T	ENSP00000507780.1:n.2177-794G>T
ENST00000683489.1:c.2292-326G>T	ENSP00000508403.1:n.2292-326G>T
ENST00000683680.1:c.2319-326G>T	ENSP00000507223.1:n.2319-326G>T
ENST00000684163.1:c.2204-794G>T	ENSP00000508262.1:n.2204-794G>T
ENST00000684196.1:n.4543-794G>T
ENST00000684325.1:c.2186-8604G>T	ENSP00000508121.1:n.2186-8604G>T
ENST00000684385.1:c.2221-794G>T	ENSP00000507855.1:n.2221-794G>T
ENST00000684497.1:c.2186-7634G>T	ENSP00000507057.1:n.2186-7634G>T
ENST00000382292.9:c.13598G>T MANE Select	ENSP00000371729.3:p.Ser4533Ile
ENST00000423156.2:c.2186-794G>T	ENSP00000390925.2:n.2186-794G>T
ENST00000455470.6:c.2432-794G>T	ENSP00000406565.2:n.2432-794G>T
ENST00000382292.7:c.13598G>T	ENSP00000371729.3:p.Ser4533Ile
ENST00000382298.7:c.13598G>T	ENSP00000371735.3:p.Ser4533Ile
ENST00000402364.1:c.11348G>T	ENSP00000385844.1:p.Ser3783Ile
ENST00000423156.1:c.1058-794G>T	ENSP00000390925.1:n.1058-794G>T
ENST00000455470.5:c.2130-794G>T
NM_001278055.1:c.13157G>T	NP_001264984.1:p.Ser4386Ile
NM_014363.5:c.13598G>T	NP_055178.3:p.Ser4533Ile
XM_005266338.1:c.13625G>T	XP_005266395.1:p.Ser4542Ile
XM_011535038.1:c.13649G>T	XP_011533340.1:p.Ser4550Ile
XM_011535039.1:c.13616G>T	XP_011533341.1:p.Ser4539Ile
XM_005266338.2:c.13625G>T	XP_005266395.1:p.Ser4542Ile
XM_011535039.2:c.13616G>T	XP_011533341.1:p.Ser4539Ile
XM_017020539.1:c.13589G>T	XP_016876028.1:p.Ser4530Ile
XM_024449337.1:c.13625G>T	XP_024305105.1:p.Ser4542Ile
NM_014363.6:c.13598G>T MANE Select	NP_055178.3:p.Ser4533Ile
NM_001278055.2:c.13157G>T	NP_001264984.1:p.Ser4386Ile