Canonical Allele Identifier: CA387549536

Gene: SACS

Linked Data

• gnomAD v4: 13-23355363-C-A
• MyVariant Identifiers: chr13:g.23929502C>A (hg19) ; chr13:g.23355363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355363C>A , CM000675.2:g.23355363C>A	GRCh38
NC_000013.10:g.23929502C>A , CM000675.1:g.23929502C>A	GRCh37
NC_000013.9:g.22827502C>A	NCBI36
NG_012342.1:g.83340G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1249G>T	ENSP00000508399.1:p.Val417Phe
ENST00000682944.1:c.1249G>T	ENSP00000507173.1:p.Val417Phe
ENST00000683154.1:n.1387G>T
ENST00000683210.1:c.1249G>T	ENSP00000506739.1:p.Val417Phe
ENST00000683270.1:c.1240G>T	ENSP00000507624.1:p.Val414Phe
ENST00000683367.1:c.1240G>T	ENSP00000507780.1:p.Val414Phe
ENST00000683489.1:c.1249G>T	ENSP00000508403.1:p.Val417Phe
ENST00000683680.1:c.1249G>T	ENSP00000507223.1:p.Val417Phe
ENST00000684163.1:c.1240G>T	ENSP00000508262.1:p.Val414Phe
ENST00000684196.1:n.3606G>T
ENST00000684325.1:c.1249G>T	ENSP00000508121.1:p.Val417Phe
ENST00000684385.1:c.1249G>T	ENSP00000507855.1:p.Val417Phe
ENST00000684497.1:c.1249G>T	ENSP00000507057.1:p.Val417Phe
ENST00000382292.9:c.1249G>T MANE Select	ENSP00000371729.3:p.Val417Phe
ENST00000423156.2:c.1249G>T	ENSP00000390925.2:p.Val417Phe
ENST00000455470.6:c.1249G>T	ENSP00000406565.2:p.Val417Phe
ENST00000382292.7:c.1249G>T	ENSP00000371729.3:p.Val417Phe
ENST00000382298.7:c.1249G>T	ENSP00000371735.3:p.Val417Phe
ENST00000402364.1:c.-1002G>T	ENSP00000385844.1:n.-1002G>T
ENST00000423156.1:c.121G>T	ENSP00000390925.1:p.Val41Phe
ENST00000455470.5:c.947G>T
NM_001278055.1:c.808G>T	NP_001264984.1:p.Val270Phe
NM_014363.5:c.1249G>T	NP_055178.3:p.Val417Phe
XM_005266338.1:c.1249G>T	XP_005266395.1:p.Val417Phe
XM_011535038.1:c.1273G>T	XP_011533340.1:p.Val425Phe
XM_011535039.1:c.1240G>T	XP_011533341.1:p.Val414Phe
XM_005266338.2:c.1249G>T	XP_005266395.1:p.Val417Phe
XM_011535039.2:c.1240G>T	XP_011533341.1:p.Val414Phe
XM_017020539.1:c.1240G>T	XP_016876028.1:p.Val414Phe
XM_024449337.1:c.1249G>T	XP_024305105.1:p.Val417Phe
NM_014363.6:c.1249G>T MANE Select	NP_055178.3:p.Val417Phe
NM_001278055.2:c.808G>T	NP_001264984.1:p.Val270Phe