Canonical Allele Identifier: CA387534833

Gene: SACS

Linked Data

• dbSNP Id: rs1254853262
• gnomAD v4: 13-23340363-C-A
• MyVariant Identifiers: chr13:g.23914502C>A (hg19) ; chr13:g.23340363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340363C>A , CM000675.2:g.23340363C>A	GRCh38
NC_000013.10:g.23914502C>A , CM000675.1:g.23914502C>A	GRCh37
NC_000013.9:g.22812502C>A	NCBI36
NG_012342.1:g.98340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13422G>T	ENSP00000508399.1:n.2185+13422G>T
ENST00000682944.1:c.3540G>T	ENSP00000507173.1:p.Leu1180Phe
ENST00000683210.1:c.2185+13422G>T	ENSP00000506739.1:n.2185+13422G>T
ENST00000683270.1:c.3504G>T	ENSP00000507624.1:p.Leu1168Phe
ENST00000683367.1:c.2177-10879G>T	ENSP00000507780.1:n.2177-10879G>T
ENST00000683489.1:c.2291+1222G>T	ENSP00000508403.1:n.2291+1222G>T
ENST00000683680.1:c.2318+1222G>T	ENSP00000507223.1:n.2318+1222G>T
ENST00000684163.1:c.2203+6448G>T	ENSP00000508262.1:n.2203+6448G>T
ENST00000684196.1:n.4543-10879G>T
ENST00000684325.1:c.2185+13422G>T	ENSP00000508121.1:n.2185+13422G>T
ENST00000684385.1:c.2220+6448G>T	ENSP00000507855.1:n.2220+6448G>T
ENST00000684497.1:c.2185+13422G>T	ENSP00000507057.1:n.2185+13422G>T
ENST00000382292.9:c.3513G>T MANE Select	ENSP00000371729.3:p.Leu1171Phe
ENST00000423156.2:c.2186-10879G>T	ENSP00000390925.2:n.2186-10879G>T
ENST00000455470.6:c.2431+1082G>T	ENSP00000406565.2:n.2431+1082G>T
ENST00000382292.7:c.3513G>T	ENSP00000371729.3:p.Leu1171Phe
ENST00000382298.7:c.3513G>T	ENSP00000371735.3:p.Leu1171Phe
ENST00000402364.1:c.1263G>T	ENSP00000385844.1:p.Leu421Phe
ENST00000423156.1:c.1058-10879G>T	ENSP00000390925.1:n.1058-10879G>T
ENST00000455470.5:c.2129+1082G>T
NM_001278055.1:c.3072G>T	NP_001264984.1:p.Leu1024Phe
NM_014363.5:c.3513G>T	NP_055178.3:p.Leu1171Phe
XM_005266338.1:c.3540G>T	XP_005266395.1:p.Leu1180Phe
XM_011535038.1:c.3564G>T	XP_011533340.1:p.Leu1188Phe
XM_011535039.1:c.3531G>T	XP_011533341.1:p.Leu1177Phe
XM_005266338.2:c.3540G>T	XP_005266395.1:p.Leu1180Phe
XM_011535039.2:c.3531G>T	XP_011533341.1:p.Leu1177Phe
XM_017020539.1:c.3504G>T	XP_016876028.1:p.Leu1168Phe
XM_024449337.1:c.3540G>T	XP_024305105.1:p.Leu1180Phe
NM_014363.6:c.3513G>T MANE Select	NP_055178.3:p.Leu1171Phe
NM_001278055.2:c.3072G>T	NP_001264984.1:p.Leu1024Phe