Canonical Allele Identifier: CA387527869

Gene: SACS

Linked Data

• ClinVar Variation Id: 2694696
• ClinVar RCV Id: RCV003588987
• MyVariant Identifiers: chr13:g.23913271C>G (hg19) ; chr13:g.23339132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339132C>G , CM000675.2:g.23339132C>G	GRCh38
NC_000013.10:g.23913271C>G , CM000675.1:g.23913271C>G	GRCh37
NC_000013.9:g.22811271C>G	NCBI36
NG_012342.1:g.99571G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14653G>C	ENSP00000508399.1:n.2185+14653G>C
ENST00000682944.1:c.4771G>C	ENSP00000507173.1:p.Asp1591His
ENST00000683210.1:c.2185+14653G>C	ENSP00000506739.1:n.2185+14653G>C
ENST00000683270.1:c.4735G>C	ENSP00000507624.1:p.Asp1579His
ENST00000683367.1:c.2177-9648G>C	ENSP00000507780.1:n.2177-9648G>C
ENST00000683489.1:c.2291+2453G>C	ENSP00000508403.1:n.2291+2453G>C
ENST00000683680.1:c.2318+2453G>C	ENSP00000507223.1:n.2318+2453G>C
ENST00000684163.1:c.2203+7679G>C	ENSP00000508262.1:n.2203+7679G>C
ENST00000684196.1:n.4543-9648G>C
ENST00000684325.1:c.2185+14653G>C	ENSP00000508121.1:n.2185+14653G>C
ENST00000684385.1:c.2220+7679G>C	ENSP00000507855.1:n.2220+7679G>C
ENST00000684497.1:c.2185+14653G>C	ENSP00000507057.1:n.2185+14653G>C
ENST00000382292.9:c.4744G>C MANE Select	ENSP00000371729.3:p.Asp1582His
ENST00000423156.2:c.2186-9648G>C	ENSP00000390925.2:n.2186-9648G>C
ENST00000455470.6:c.2431+2313G>C	ENSP00000406565.2:n.2431+2313G>C
ENST00000382292.7:c.4744G>C	ENSP00000371729.3:p.Asp1582His
ENST00000382298.7:c.4744G>C	ENSP00000371735.3:p.Asp1582His
ENST00000402364.1:c.2494G>C	ENSP00000385844.1:p.Asp832His
ENST00000423156.1:c.1058-9648G>C	ENSP00000390925.1:n.1058-9648G>C
ENST00000455470.5:c.2129+2313G>C
NM_001278055.1:c.4303G>C	NP_001264984.1:p.Asp1435His
NM_014363.5:c.4744G>C	NP_055178.3:p.Asp1582His
XM_005266338.1:c.4771G>C	XP_005266395.1:p.Asp1591His
XM_011535038.1:c.4795G>C	XP_011533340.1:p.Asp1599His
XM_011535039.1:c.4762G>C	XP_011533341.1:p.Asp1588His
XM_005266338.2:c.4771G>C	XP_005266395.1:p.Asp1591His
XM_011535039.2:c.4762G>C	XP_011533341.1:p.Asp1588His
XM_017020539.1:c.4735G>C	XP_016876028.1:p.Asp1579His
XM_024449337.1:c.4771G>C	XP_024305105.1:p.Asp1591His
NM_014363.6:c.4744G>C MANE Select	NP_055178.3:p.Asp1582His
NM_001278055.2:c.4303G>C	NP_001264984.1:p.Asp1435His