Canonical Allele Identifier: CA387549927

Gene: SACS

Linked Data

• dbSNP Id: rs1243267153
• gnomAD v2: 13-23929572-C-G
• gnomAD v4: 13-23355433-C-G
• MyVariant Identifiers: chr13:g.23929572C>G (hg19) ; chr13:g.23355433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355433C>G , CM000675.2:g.23355433C>G	GRCh38
NC_000013.10:g.23929572C>G , CM000675.1:g.23929572C>G	GRCh37
NC_000013.9:g.22827572C>G	NCBI36
NG_012342.1:g.83270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1179G>C	ENSP00000508399.1:p.Leu393Phe
ENST00000682944.1:c.1179G>C	ENSP00000507173.1:p.Leu393Phe
ENST00000683154.1:n.1317G>C
ENST00000683210.1:c.1179G>C	ENSP00000506739.1:p.Leu393Phe
ENST00000683270.1:c.1170G>C	ENSP00000507624.1:p.Leu390Phe
ENST00000683367.1:c.1170G>C	ENSP00000507780.1:p.Leu390Phe
ENST00000683489.1:c.1179G>C	ENSP00000508403.1:p.Leu393Phe
ENST00000683680.1:c.1179G>C	ENSP00000507223.1:p.Leu393Phe
ENST00000684163.1:c.1170G>C	ENSP00000508262.1:p.Leu390Phe
ENST00000684196.1:n.3536G>C
ENST00000684325.1:c.1179G>C	ENSP00000508121.1:p.Leu393Phe
ENST00000684385.1:c.1179G>C	ENSP00000507855.1:p.Leu393Phe
ENST00000684497.1:c.1179G>C	ENSP00000507057.1:p.Leu393Phe
ENST00000382292.9:c.1179G>C MANE Select	ENSP00000371729.3:p.Leu393Phe
ENST00000423156.2:c.1179G>C	ENSP00000390925.2:p.Leu393Phe
ENST00000455470.6:c.1179G>C	ENSP00000406565.2:p.Leu393Phe
ENST00000382292.7:c.1179G>C	ENSP00000371729.3:p.Leu393Phe
ENST00000382298.7:c.1179G>C	ENSP00000371735.3:p.Leu393Phe
ENST00000402364.1:c.-1072G>C	ENSP00000385844.1:n.-1072G>C
ENST00000423156.1:c.51G>C	ENSP00000390925.1:p.Leu17Phe
ENST00000455470.5:c.877G>C
NM_001278055.1:c.738G>C	NP_001264984.1:p.Leu246Phe
NM_014363.5:c.1179G>C	NP_055178.3:p.Leu393Phe
XM_005266338.1:c.1179G>C	XP_005266395.1:p.Leu393Phe
XM_011535038.1:c.1203G>C	XP_011533340.1:p.Leu401Phe
XM_011535039.1:c.1170G>C	XP_011533341.1:p.Leu390Phe
XM_005266338.2:c.1179G>C	XP_005266395.1:p.Leu393Phe
XM_011535039.2:c.1170G>C	XP_011533341.1:p.Leu390Phe
XM_017020539.1:c.1170G>C	XP_016876028.1:p.Leu390Phe
XM_024449337.1:c.1179G>C	XP_024305105.1:p.Leu393Phe
NM_014363.6:c.1179G>C MANE Select	NP_055178.3:p.Leu393Phe
NM_001278055.2:c.738G>C	NP_001264984.1:p.Leu246Phe