Canonical Allele Identifier: CA387506393
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330939C>G , CM000675.2:g.23330939C>G GRCh38
NC_000013.10:g.23905078C>G , CM000675.1:g.23905078C>G GRCh37
NC_000013.9:g.22803078C>G NCBI36
NG_012342.1:g.107764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18824G>C ENSP00000508399.1:n.2186-18824G>C
ENST00000682944.1:c.12964G>C ENSP00000507173.1:p.Val4322Leu
ENST00000683210.1:c.2185+22846G>C ENSP00000506739.1:n.2185+22846G>C
ENST00000683270.1:c.6446-1455G>C ENSP00000507624.1:n.6446-1455G>C
ENST00000683367.1:c.2177-1455G>C ENSP00000507780.1:n.2177-1455G>C
ENST00000683489.1:c.2292-987G>C ENSP00000508403.1:n.2292-987G>C
ENST00000683680.1:c.2319-987G>C ENSP00000507223.1:n.2319-987G>C
ENST00000684163.1:c.2204-1455G>C ENSP00000508262.1:n.2204-1455G>C
ENST00000684196.1:n.4543-1455G>C
ENST00000684325.1:c.2186-9265G>C ENSP00000508121.1:n.2186-9265G>C
ENST00000684385.1:c.2221-1455G>C ENSP00000507855.1:n.2221-1455G>C
ENST00000684497.1:c.2186-8295G>C ENSP00000507057.1:n.2186-8295G>C
ENST00000382292.9:c.12937G>C MANE Select ENSP00000371729.3:p.Val4313Leu
ENST00000423156.2:c.2186-1455G>C ENSP00000390925.2:n.2186-1455G>C
ENST00000455470.6:c.2432-1455G>C ENSP00000406565.2:n.2432-1455G>C
ENST00000382292.7:c.12937G>C ENSP00000371729.3:p.Val4313Leu
ENST00000382298.7:c.12937G>C ENSP00000371735.3:p.Val4313Leu
ENST00000402364.1:c.10687G>C ENSP00000385844.1:p.Val3563Leu
ENST00000423156.1:c.1058-1455G>C ENSP00000390925.1:n.1058-1455G>C
ENST00000455470.5:c.2130-1455G>C
NM_001278055.1:c.12496G>C NP_001264984.1:p.Val4166Leu
NM_014363.5:c.12937G>C NP_055178.3:p.Val4313Leu
XM_005266338.1:c.12964G>C XP_005266395.1:p.Val4322Leu
XM_011535038.1:c.12988G>C XP_011533340.1:p.Val4330Leu
XM_011535039.1:c.12955G>C XP_011533341.1:p.Val4319Leu
XM_005266338.2:c.12964G>C XP_005266395.1:p.Val4322Leu
XM_011535039.2:c.12955G>C XP_011533341.1:p.Val4319Leu
XM_017020539.1:c.12928G>C XP_016876028.1:p.Val4310Leu
XM_024449337.1:c.12964G>C XP_024305105.1:p.Val4322Leu
NM_014363.6:c.12937G>C MANE Select NP_055178.3:p.Val4313Leu
NM_001278055.2:c.12496G>C NP_001264984.1:p.Val4166Leu