Canonical Allele Identifier: CA483161545
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs2137609761
MyVariant Identifiers: chr13:g.23911571T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337432T>C , CM000675.2:g.23337432T>C GRCh38
NC_000013.10:g.23911571T>C , CM000675.1:g.23911571T>C GRCh37
NC_000013.9:g.22809571T>C NCBI36
NG_012342.1:g.101271A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16353A>G ENSP00000508399.1:n.2185+16353A>G
ENST00000682944.1:c.6471A>G ENSP00000507173.1:p.Leu2157=
ENST00000683210.1:c.2185+16353A>G ENSP00000506739.1:n.2185+16353A>G
ENST00000683270.1:c.6435A>G ENSP00000507624.1:p.Leu2145=
ENST00000683367.1:c.2177-7948A>G ENSP00000507780.1:n.2177-7948A>G
ENST00000683489.1:c.2291+4153A>G ENSP00000508403.1:n.2291+4153A>G
ENST00000683680.1:c.2318+4153A>G ENSP00000507223.1:n.2318+4153A>G
ENST00000684163.1:c.2204-7948A>G ENSP00000508262.1:n.2204-7948A>G
ENST00000684196.1:n.4543-7948A>G
ENST00000684325.1:c.2186-15758A>G ENSP00000508121.1:n.2186-15758A>G
ENST00000684385.1:c.2221-7948A>G ENSP00000507855.1:n.2221-7948A>G
ENST00000684497.1:c.2186-14788A>G ENSP00000507057.1:n.2186-14788A>G
ENST00000382292.9:c.6444A>G MANE Select ENSP00000371729.3:p.Leu2148=
ENST00000423156.2:c.2186-7948A>G ENSP00000390925.2:n.2186-7948A>G
ENST00000455470.6:c.2431+4013A>G ENSP00000406565.2:n.2431+4013A>G
ENST00000382292.7:c.6444A>G ENSP00000371729.3:p.Leu2148=
ENST00000382298.7:c.6444A>G ENSP00000371735.3:p.Leu2148=
ENST00000402364.1:c.4194A>G ENSP00000385844.1:p.Leu1398=
ENST00000423156.1:c.1058-7948A>G ENSP00000390925.1:n.1058-7948A>G
ENST00000455470.5:c.2129+4013A>G
NM_001278055.1:c.6003A>G NP_001264984.1:p.Leu2001=
NM_014363.5:c.6444A>G NP_055178.3:p.Leu2148=
XM_005266338.1:c.6471A>G XP_005266395.1:p.Leu2157=
XM_011535038.1:c.6495A>G XP_011533340.1:p.Leu2165=
XM_011535039.1:c.6462A>G XP_011533341.1:p.Leu2154=
XM_005266338.2:c.6471A>G XP_005266395.1:p.Leu2157=
XM_011535039.2:c.6462A>G XP_011533341.1:p.Leu2154=
XM_017020539.1:c.6435A>G XP_016876028.1:p.Leu2145=
XM_024449337.1:c.6471A>G XP_024305105.1:p.Leu2157=
NM_014363.6:c.6444A>G MANE Select NP_055178.3:p.Leu2148=
NM_001278055.2:c.6003A>G NP_001264984.1:p.Leu2001=