Canonical Allele Identifier: CA483160077

Gene: SACS

Linked Data

• ClinVar Variation Id: 2012404
• ClinVar RCV Id: RCV002843091
• MyVariant Identifiers: chr13:g.23909392A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335253A>G , CM000675.2:g.23335253A>G	GRCh38
NC_000013.10:g.23909392A>G , CM000675.1:g.23909392A>G	GRCh37
NC_000013.9:g.22807392A>G	NCBI36
NG_012342.1:g.103450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18532T>C	ENSP00000508399.1:n.2185+18532T>C
ENST00000682944.1:c.8650T>C	ENSP00000507173.1:p.Leu2884=
ENST00000683210.1:c.2185+18532T>C	ENSP00000506739.1:n.2185+18532T>C
ENST00000683270.1:c.6445+2169T>C	ENSP00000507624.1:n.6445+2169T>C
ENST00000683367.1:c.2177-5769T>C	ENSP00000507780.1:n.2177-5769T>C
ENST00000683489.1:c.2292-5301T>C	ENSP00000508403.1:n.2292-5301T>C
ENST00000683680.1:c.2319-5301T>C	ENSP00000507223.1:n.2319-5301T>C
ENST00000684163.1:c.2204-5769T>C	ENSP00000508262.1:n.2204-5769T>C
ENST00000684196.1:n.4543-5769T>C
ENST00000684325.1:c.2186-13579T>C	ENSP00000508121.1:n.2186-13579T>C
ENST00000684385.1:c.2221-5769T>C	ENSP00000507855.1:n.2221-5769T>C
ENST00000684497.1:c.2186-12609T>C	ENSP00000507057.1:n.2186-12609T>C
ENST00000382292.9:c.8623T>C MANE Select	ENSP00000371729.3:p.Leu2875=
ENST00000423156.2:c.2186-5769T>C	ENSP00000390925.2:n.2186-5769T>C
ENST00000455470.6:c.2432-5769T>C	ENSP00000406565.2:n.2432-5769T>C
ENST00000382292.7:c.8623T>C	ENSP00000371729.3:p.Leu2875=
ENST00000382298.7:c.8623T>C	ENSP00000371735.3:p.Leu2875=
ENST00000402364.1:c.6373T>C	ENSP00000385844.1:p.Leu2125=
ENST00000423156.1:c.1058-5769T>C	ENSP00000390925.1:n.1058-5769T>C
ENST00000455470.5:c.2130-5769T>C
NM_001278055.1:c.8182T>C	NP_001264984.1:p.Leu2728=
NM_014363.5:c.8623T>C	NP_055178.3:p.Leu2875=
XM_005266338.1:c.8650T>C	XP_005266395.1:p.Leu2884=
XM_011535038.1:c.8674T>C	XP_011533340.1:p.Leu2892=
XM_011535039.1:c.8641T>C	XP_011533341.1:p.Leu2881=
XM_005266338.2:c.8650T>C	XP_005266395.1:p.Leu2884=
XM_011535039.2:c.8641T>C	XP_011533341.1:p.Leu2881=
XM_017020539.1:c.8614T>C	XP_016876028.1:p.Leu2872=
XM_024449337.1:c.8650T>C	XP_024305105.1:p.Leu2884=
NM_014363.6:c.8623T>C MANE Select	NP_055178.3:p.Leu2875=
NM_001278055.2:c.8182T>C	NP_001264984.1:p.Leu2728=