Canonical Allele Identifier: CA387554576

Gene: SACS

Linked Data

• gnomAD v4: 13-23375190-C-A
• MyVariant Identifiers: chr13:g.23949329C>A (hg19) ; chr13:g.23375190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375190C>A , CM000675.2:g.23375190C>A	GRCh38
NC_000013.10:g.23949329C>A , CM000675.1:g.23949329C>A	GRCh37
NC_000013.9:g.22847329C>A	NCBI36
NG_012342.1:g.63513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.673G>T
ENST00000682547.1:c.137G>T	ENSP00000507735.1:p.Cys46Phe
ENST00000682775.1:c.100G>T	ENSP00000508399.1:p.Val34Leu
ENST00000682944.1:c.100G>T	ENSP00000507173.1:p.Val34Leu
ENST00000683154.1:n.238G>T
ENST00000683210.1:c.100G>T	ENSP00000506739.1:p.Val34Leu
ENST00000683270.1:c.91G>T	ENSP00000507624.1:p.Val31Leu
ENST00000683367.1:c.91G>T	ENSP00000507780.1:p.Val31Leu
ENST00000683489.1:c.100G>T	ENSP00000508403.1:p.Val34Leu
ENST00000683680.1:c.100G>T	ENSP00000507223.1:p.Val34Leu
ENST00000684053.1:n.217G>T
ENST00000684163.1:c.91G>T	ENSP00000508262.1:p.Val31Leu
ENST00000684325.1:c.100G>T	ENSP00000508121.1:p.Val34Leu
ENST00000684385.1:c.100G>T	ENSP00000507855.1:p.Val34Leu
ENST00000684497.1:c.100G>T	ENSP00000507057.1:p.Val34Leu
ENST00000382292.9:c.100G>T MANE Select	ENSP00000371729.3:p.Val34Leu
ENST00000423156.2:c.100G>T	ENSP00000390925.2:p.Val34Leu
ENST00000455470.6:c.100G>T	ENSP00000406565.2:p.Val34Leu
ENST00000382292.7:c.100G>T	ENSP00000371729.3:p.Val34Leu
ENST00000382298.7:c.100G>T	ENSP00000371735.3:p.Val34Leu
ENST00000402364.1:c.-2063G>T	ENSP00000385844.1:n.-2063G>T
NM_001278055.1:c.-254G>T	NP_001264984.1:n.-254G>T
NM_014363.5:c.100G>T	NP_055178.3:p.Val34Leu
XM_005266338.1:c.100G>T	XP_005266395.1:p.Val34Leu
XM_011535038.1:c.124G>T	XP_011533340.1:p.Val42Leu
XM_011535039.1:c.91G>T	XP_011533341.1:p.Val31Leu
XM_005266338.2:c.100G>T	XP_005266395.1:p.Val34Leu
XM_011535039.2:c.91G>T	XP_011533341.1:p.Val31Leu
XM_017020539.1:c.91G>T	XP_016876028.1:p.Val31Leu
XM_024449337.1:c.100G>T	XP_024305105.1:p.Val34Leu
NM_014363.6:c.100G>T MANE Select	NP_055178.3:p.Val34Leu
NM_001278055.2:c.-254G>T	NP_001264984.1:n.-254G>T