Canonical Allele Identifier: CA6910176
Community Standard Title: NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331728A>G , CM000675.2:g.23331728A>G GRCh38
NC_000013.10:g.23905867A>G , CM000675.1:g.23905867A>G GRCh37
NC_000013.9:g.22803867A>G NCBI36
NG_012342.1:g.106975T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.12148T>C MANE Select NP_055178.3:p.Phe4050Leu
ENST00000382292.9:c.12148T>C MANE Select ENSP00000371729.3:p.Phe4050Leu
NM_001278055.1:c.11707T>C NP_001264984.1:p.Phe3903Leu
NM_001278055.2:c.11707T>C NP_001264984.1:p.Phe3903Leu
NM_014363.5:c.12148T>C NP_055178.3:p.Phe4050Leu
ENST00000382292.7:c.12148T>C ENSP00000371729.3:p.Phe4050Leu
ENST00000382298.7:c.12148T>C ENSP00000371735.3:p.Phe4050Leu
ENST00000402364.1:c.9898T>C ENSP00000385844.1:p.Phe3300Leu
ENST00000423156.1:c.1058-2244T>C ENSP00000390925.1:n.1058-2244T>C
ENST00000423156.2:c.2186-2244T>C ENSP00000390925.2:n.2186-2244T>C
ENST00000455470.5:c.2130-2244T>C
ENST00000455470.6:c.2432-2244T>C ENSP00000406565.2:n.2432-2244T>C
ENST00000682775.1:c.2186-19613T>C ENSP00000508399.1:n.2186-19613T>C
ENST00000682944.1:c.12175T>C ENSP00000507173.1:p.Phe4059Leu
ENST00000683210.1:c.2185+22057T>C ENSP00000506739.1:n.2185+22057T>C
ENST00000683270.1:c.6446-2244T>C ENSP00000507624.1:n.6446-2244T>C
ENST00000683367.1:c.2177-2244T>C ENSP00000507780.1:n.2177-2244T>C
ENST00000683489.1:c.2292-1776T>C ENSP00000508403.1:n.2292-1776T>C
ENST00000683680.1:c.2319-1776T>C ENSP00000507223.1:n.2319-1776T>C
ENST00000684163.1:c.2204-2244T>C ENSP00000508262.1:n.2204-2244T>C
ENST00000684196.1:n.4543-2244T>C
ENST00000684325.1:c.2186-10054T>C ENSP00000508121.1:n.2186-10054T>C
ENST00000684385.1:c.2221-2244T>C ENSP00000507855.1:n.2221-2244T>C
ENST00000684497.1:c.2186-9084T>C ENSP00000507057.1:n.2186-9084T>C
XM_005266338.1:c.12175T>C XP_005266395.1:p.Phe4059Leu
XM_005266338.2:c.12175T>C XP_005266395.1:p.Phe4059Leu
XM_011535038.1:c.12199T>C XP_011533340.1:p.Phe4067Leu
XM_011535039.1:c.12166T>C XP_011533341.1:p.Phe4056Leu
XM_011535039.2:c.12166T>C XP_011533341.1:p.Phe4056Leu
XM_017020539.1:c.12139T>C XP_016876028.1:p.Phe4047Leu
XM_024449337.1:c.12175T>C XP_024305105.1:p.Phe4059Leu