Canonical Allele Identifier: CA387515007

Gene: SACS

Linked Data

• dbSNP Id: rs1868411398
• MyVariant Identifiers: chr13:g.23908834G>A (hg19) ; chr13:g.23334695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334695G>A , CM000675.2:g.23334695G>A	GRCh38
NC_000013.10:g.23908834G>A , CM000675.1:g.23908834G>A	GRCh37
NC_000013.9:g.22806834G>A	NCBI36
NG_012342.1:g.104008C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19090C>T	ENSP00000508399.1:n.2185+19090C>T
ENST00000682944.1:c.9208C>T	ENSP00000507173.1:p.Leu3070Phe
ENST00000683210.1:c.2185+19090C>T	ENSP00000506739.1:n.2185+19090C>T
ENST00000683270.1:c.6445+2727C>T	ENSP00000507624.1:n.6445+2727C>T
ENST00000683367.1:c.2177-5211C>T	ENSP00000507780.1:n.2177-5211C>T
ENST00000683489.1:c.2292-4743C>T	ENSP00000508403.1:n.2292-4743C>T
ENST00000683680.1:c.2319-4743C>T	ENSP00000507223.1:n.2319-4743C>T
ENST00000684163.1:c.2204-5211C>T	ENSP00000508262.1:n.2204-5211C>T
ENST00000684196.1:n.4543-5211C>T
ENST00000684325.1:c.2186-13021C>T	ENSP00000508121.1:n.2186-13021C>T
ENST00000684385.1:c.2221-5211C>T	ENSP00000507855.1:n.2221-5211C>T
ENST00000684497.1:c.2186-12051C>T	ENSP00000507057.1:n.2186-12051C>T
ENST00000382292.9:c.9181C>T MANE Select	ENSP00000371729.3:p.Leu3061Phe
ENST00000423156.2:c.2186-5211C>T	ENSP00000390925.2:n.2186-5211C>T
ENST00000455470.6:c.2432-5211C>T	ENSP00000406565.2:n.2432-5211C>T
ENST00000382292.7:c.9181C>T	ENSP00000371729.3:p.Leu3061Phe
ENST00000382298.7:c.9181C>T	ENSP00000371735.3:p.Leu3061Phe
ENST00000402364.1:c.6931C>T	ENSP00000385844.1:p.Leu2311Phe
ENST00000423156.1:c.1058-5211C>T	ENSP00000390925.1:n.1058-5211C>T
ENST00000455470.5:c.2130-5211C>T
NM_001278055.1:c.8740C>T	NP_001264984.1:p.Leu2914Phe
NM_014363.5:c.9181C>T	NP_055178.3:p.Leu3061Phe
XM_005266338.1:c.9208C>T	XP_005266395.1:p.Leu3070Phe
XM_011535038.1:c.9232C>T	XP_011533340.1:p.Leu3078Phe
XM_011535039.1:c.9199C>T	XP_011533341.1:p.Leu3067Phe
XM_005266338.2:c.9208C>T	XP_005266395.1:p.Leu3070Phe
XM_011535039.2:c.9199C>T	XP_011533341.1:p.Leu3067Phe
XM_017020539.1:c.9172C>T	XP_016876028.1:p.Leu3058Phe
XM_024449337.1:c.9208C>T	XP_024305105.1:p.Leu3070Phe
NM_014363.6:c.9181C>T MANE Select	NP_055178.3:p.Leu3061Phe
NM_001278055.2:c.8740C>T	NP_001264984.1:p.Leu2914Phe