Canonical Allele Identifier: CA387504679

Gene: SACS

Linked Data

• dbSNP Id: rs1216135861
• gnomAD v2: 13-23904318-C-A
• gnomAD v4: 13-23330179-C-A
• MyVariant Identifiers: chr13:g.23904318C>A (hg19) ; chr13:g.23330179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330179C>A , CM000675.2:g.23330179C>A	GRCh38
NC_000013.10:g.23904318C>A , CM000675.1:g.23904318C>A	GRCh37
NC_000013.9:g.22802318C>A	NCBI36
NG_012342.1:g.108524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18064G>T	ENSP00000508399.1:n.2186-18064G>T
ENST00000682944.1:c.13724G>T	ENSP00000507173.1:p.Cys4575Phe
ENST00000683210.1:c.2185+23606G>T	ENSP00000506739.1:n.2185+23606G>T
ENST00000683270.1:c.6446-695G>T	ENSP00000507624.1:n.6446-695G>T
ENST00000683367.1:c.2177-695G>T	ENSP00000507780.1:n.2177-695G>T
ENST00000683489.1:c.2292-227G>T	ENSP00000508403.1:n.2292-227G>T
ENST00000683680.1:c.2319-227G>T	ENSP00000507223.1:n.2319-227G>T
ENST00000684163.1:c.2204-695G>T	ENSP00000508262.1:n.2204-695G>T
ENST00000684196.1:n.4543-695G>T
ENST00000684325.1:c.2186-8505G>T	ENSP00000508121.1:n.2186-8505G>T
ENST00000684385.1:c.2221-695G>T	ENSP00000507855.1:n.2221-695G>T
ENST00000684497.1:c.2186-7535G>T	ENSP00000507057.1:n.2186-7535G>T
ENST00000382292.9:c.13697G>T MANE Select	ENSP00000371729.3:p.Cys4566Phe
ENST00000423156.2:c.2186-695G>T	ENSP00000390925.2:n.2186-695G>T
ENST00000455470.6:c.2432-695G>T	ENSP00000406565.2:n.2432-695G>T
ENST00000382292.7:c.13697G>T	ENSP00000371729.3:p.Cys4566Phe
ENST00000382298.7:c.13697G>T	ENSP00000371735.3:p.Cys4566Phe
ENST00000402364.1:c.11447G>T	ENSP00000385844.1:p.Cys3816Phe
ENST00000423156.1:c.1058-695G>T	ENSP00000390925.1:n.1058-695G>T
ENST00000455470.5:c.2130-695G>T
NM_001278055.1:c.13256G>T	NP_001264984.1:p.Cys4419Phe
NM_014363.5:c.13697G>T	NP_055178.3:p.Cys4566Phe
XM_005266338.1:c.13724G>T	XP_005266395.1:p.Cys4575Phe
XM_011535038.1:c.13748G>T	XP_011533340.1:p.Cys4583Phe
XM_011535039.1:c.13715G>T	XP_011533341.1:p.Cys4572Phe
XM_005266338.2:c.13724G>T	XP_005266395.1:p.Cys4575Phe
XM_011535039.2:c.13715G>T	XP_011533341.1:p.Cys4572Phe
XM_017020539.1:c.13688G>T	XP_016876028.1:p.Cys4563Phe
XM_024449337.1:c.13724G>T	XP_024305105.1:p.Cys4575Phe
NM_014363.6:c.13697G>T MANE Select	NP_055178.3:p.Cys4566Phe
NM_001278055.2:c.13256G>T	NP_001264984.1:p.Cys4419Phe