Canonical Allele Identifier: CA387505990

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904912A>C (hg19) ; chr13:g.23330773A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330773A>C , CM000675.2:g.23330773A>C	GRCh38
NC_000013.10:g.23904912A>C , CM000675.1:g.23904912A>C	GRCh37
NC_000013.9:g.22802912A>C	NCBI36
NG_012342.1:g.107930T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18658T>G	ENSP00000508399.1:n.2186-18658T>G
ENST00000682944.1:c.13130T>G	ENSP00000507173.1:p.Leu4377Arg
ENST00000683210.1:c.2185+23012T>G	ENSP00000506739.1:n.2185+23012T>G
ENST00000683270.1:c.6446-1289T>G	ENSP00000507624.1:n.6446-1289T>G
ENST00000683367.1:c.2177-1289T>G	ENSP00000507780.1:n.2177-1289T>G
ENST00000683489.1:c.2292-821T>G	ENSP00000508403.1:n.2292-821T>G
ENST00000683680.1:c.2319-821T>G	ENSP00000507223.1:n.2319-821T>G
ENST00000684163.1:c.2204-1289T>G	ENSP00000508262.1:n.2204-1289T>G
ENST00000684196.1:n.4543-1289T>G
ENST00000684325.1:c.2186-9099T>G	ENSP00000508121.1:n.2186-9099T>G
ENST00000684385.1:c.2221-1289T>G	ENSP00000507855.1:n.2221-1289T>G
ENST00000684497.1:c.2186-8129T>G	ENSP00000507057.1:n.2186-8129T>G
ENST00000382292.9:c.13103T>G MANE Select	ENSP00000371729.3:p.Leu4368Arg
ENST00000423156.2:c.2186-1289T>G	ENSP00000390925.2:n.2186-1289T>G
ENST00000455470.6:c.2432-1289T>G	ENSP00000406565.2:n.2432-1289T>G
ENST00000382292.7:c.13103T>G	ENSP00000371729.3:p.Leu4368Arg
ENST00000382298.7:c.13103T>G	ENSP00000371735.3:p.Leu4368Arg
ENST00000402364.1:c.10853T>G	ENSP00000385844.1:p.Leu3618Arg
ENST00000423156.1:c.1058-1289T>G	ENSP00000390925.1:n.1058-1289T>G
ENST00000455470.5:c.2130-1289T>G
NM_001278055.1:c.12662T>G	NP_001264984.1:p.Leu4221Arg
NM_014363.5:c.13103T>G	NP_055178.3:p.Leu4368Arg
XM_005266338.1:c.13130T>G	XP_005266395.1:p.Leu4377Arg
XM_011535038.1:c.13154T>G	XP_011533340.1:p.Leu4385Arg
XM_011535039.1:c.13121T>G	XP_011533341.1:p.Leu4374Arg
XM_005266338.2:c.13130T>G	XP_005266395.1:p.Leu4377Arg
XM_011535039.2:c.13121T>G	XP_011533341.1:p.Leu4374Arg
XM_017020539.1:c.13094T>G	XP_016876028.1:p.Leu4365Arg
XM_024449337.1:c.13130T>G	XP_024305105.1:p.Leu4377Arg
NM_014363.6:c.13103T>G MANE Select	NP_055178.3:p.Leu4368Arg
NM_001278055.2:c.12662T>G	NP_001264984.1:p.Leu4221Arg