Canonical Allele Identifier: CA387506009

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904920C>G (hg19) ; chr13:g.23330781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330781C>G , CM000675.2:g.23330781C>G	GRCh38
NC_000013.10:g.23904920C>G , CM000675.1:g.23904920C>G	GRCh37
NC_000013.9:g.22802920C>G	NCBI36
NG_012342.1:g.107922G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18666G>C	ENSP00000508399.1:n.2186-18666G>C
ENST00000682944.1:c.13122G>C	ENSP00000507173.1:p.Gln4374His
ENST00000683210.1:c.2185+23004G>C	ENSP00000506739.1:n.2185+23004G>C
ENST00000683270.1:c.6446-1297G>C	ENSP00000507624.1:n.6446-1297G>C
ENST00000683367.1:c.2177-1297G>C	ENSP00000507780.1:n.2177-1297G>C
ENST00000683489.1:c.2292-829G>C	ENSP00000508403.1:n.2292-829G>C
ENST00000683680.1:c.2319-829G>C	ENSP00000507223.1:n.2319-829G>C
ENST00000684163.1:c.2204-1297G>C	ENSP00000508262.1:n.2204-1297G>C
ENST00000684196.1:n.4543-1297G>C
ENST00000684325.1:c.2186-9107G>C	ENSP00000508121.1:n.2186-9107G>C
ENST00000684385.1:c.2221-1297G>C	ENSP00000507855.1:n.2221-1297G>C
ENST00000684497.1:c.2186-8137G>C	ENSP00000507057.1:n.2186-8137G>C
ENST00000382292.9:c.13095G>C MANE Select	ENSP00000371729.3:p.Gln4365His
ENST00000423156.2:c.2186-1297G>C	ENSP00000390925.2:n.2186-1297G>C
ENST00000455470.6:c.2432-1297G>C	ENSP00000406565.2:n.2432-1297G>C
ENST00000382292.7:c.13095G>C	ENSP00000371729.3:p.Gln4365His
ENST00000382298.7:c.13095G>C	ENSP00000371735.3:p.Gln4365His
ENST00000402364.1:c.10845G>C	ENSP00000385844.1:p.Gln3615His
ENST00000423156.1:c.1058-1297G>C	ENSP00000390925.1:n.1058-1297G>C
ENST00000455470.5:c.2130-1297G>C
NM_001278055.1:c.12654G>C	NP_001264984.1:p.Gln4218His
NM_014363.5:c.13095G>C	NP_055178.3:p.Gln4365His
XM_005266338.1:c.13122G>C	XP_005266395.1:p.Gln4374His
XM_011535038.1:c.13146G>C	XP_011533340.1:p.Gln4382His
XM_011535039.1:c.13113G>C	XP_011533341.1:p.Gln4371His
XM_005266338.2:c.13122G>C	XP_005266395.1:p.Gln4374His
XM_011535039.2:c.13113G>C	XP_011533341.1:p.Gln4371His
XM_017020539.1:c.13086G>C	XP_016876028.1:p.Gln4362His
XM_024449337.1:c.13122G>C	XP_024305105.1:p.Gln4374His
NM_014363.6:c.13095G>C MANE Select	NP_055178.3:p.Gln4365His
NM_001278055.2:c.12654G>C	NP_001264984.1:p.Gln4218His