Canonical Allele Identifier: CA387518280
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336105A>G , CM000675.2:g.23336105A>G GRCh38
NC_000013.10:g.23910244A>G , CM000675.1:g.23910244A>G GRCh37
NC_000013.9:g.22808244A>G NCBI36
NG_012342.1:g.102598T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17680T>C ENSP00000508399.1:n.2185+17680T>C
ENST00000682944.1:c.7798T>C ENSP00000507173.1:p.Tyr2600His
ENST00000683210.1:c.2185+17680T>C ENSP00000506739.1:n.2185+17680T>C
ENST00000683270.1:c.6445+1317T>C ENSP00000507624.1:n.6445+1317T>C
ENST00000683367.1:c.2177-6621T>C ENSP00000507780.1:n.2177-6621T>C
ENST00000683489.1:c.2291+5480T>C ENSP00000508403.1:n.2291+5480T>C
ENST00000683680.1:c.2318+5480T>C ENSP00000507223.1:n.2318+5480T>C
ENST00000684163.1:c.2204-6621T>C ENSP00000508262.1:n.2204-6621T>C
ENST00000684196.1:n.4543-6621T>C
ENST00000684325.1:c.2186-14431T>C ENSP00000508121.1:n.2186-14431T>C
ENST00000684385.1:c.2221-6621T>C ENSP00000507855.1:n.2221-6621T>C
ENST00000684497.1:c.2186-13461T>C ENSP00000507057.1:n.2186-13461T>C
ENST00000382292.9:c.7771T>C MANE Select ENSP00000371729.3:p.Tyr2591His
ENST00000423156.2:c.2186-6621T>C ENSP00000390925.2:n.2186-6621T>C
ENST00000455470.6:c.2431+5340T>C ENSP00000406565.2:n.2431+5340T>C
ENST00000382292.7:c.7771T>C ENSP00000371729.3:p.Tyr2591His
ENST00000382298.7:c.7771T>C ENSP00000371735.3:p.Tyr2591His
ENST00000402364.1:c.5521T>C ENSP00000385844.1:p.Tyr1841His
ENST00000423156.1:c.1058-6621T>C ENSP00000390925.1:n.1058-6621T>C
ENST00000455470.5:c.2129+5340T>C
NM_001278055.1:c.7330T>C NP_001264984.1:p.Tyr2444His
NM_014363.5:c.7771T>C NP_055178.3:p.Tyr2591His
XM_005266338.1:c.7798T>C XP_005266395.1:p.Tyr2600His
XM_011535038.1:c.7822T>C XP_011533340.1:p.Tyr2608His
XM_011535039.1:c.7789T>C XP_011533341.1:p.Tyr2597His
XM_005266338.2:c.7798T>C XP_005266395.1:p.Tyr2600His
XM_011535039.2:c.7789T>C XP_011533341.1:p.Tyr2597His
XM_017020539.1:c.7762T>C XP_016876028.1:p.Tyr2588His
XM_024449337.1:c.7798T>C XP_024305105.1:p.Tyr2600His
NM_014363.6:c.7771T>C MANE Select NP_055178.3:p.Tyr2591His
NM_001278055.2:c.7330T>C NP_001264984.1:p.Tyr2444His