Canonical Allele Identifier: CA387515734

Gene: SACS

Linked Data

• ClinVar Variation Id: 2167730
• ClinVar RCV Id: RCV003086596
• dbSNP Id: rs1405652626
• gnomAD v2: 13-23909166-T-G
• gnomAD v3: 13-23335027-T-G
• gnomAD v4: 13-23335027-T-G
• MyVariant Identifiers: chr13:g.23909166T>G (hg19) ; chr13:g.23335027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335027T>G , CM000675.2:g.23335027T>G	GRCh38
NC_000013.10:g.23909166T>G , CM000675.1:g.23909166T>G	GRCh37
NC_000013.9:g.22807166T>G	NCBI36
NG_012342.1:g.103676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18758A>C	ENSP00000508399.1:n.2185+18758A>C
ENST00000682944.1:c.8876A>C	ENSP00000507173.1:p.His2959Pro
ENST00000683210.1:c.2185+18758A>C	ENSP00000506739.1:n.2185+18758A>C
ENST00000683270.1:c.6445+2395A>C	ENSP00000507624.1:n.6445+2395A>C
ENST00000683367.1:c.2177-5543A>C	ENSP00000507780.1:n.2177-5543A>C
ENST00000683489.1:c.2292-5075A>C	ENSP00000508403.1:n.2292-5075A>C
ENST00000683680.1:c.2319-5075A>C	ENSP00000507223.1:n.2319-5075A>C
ENST00000684163.1:c.2204-5543A>C	ENSP00000508262.1:n.2204-5543A>C
ENST00000684196.1:n.4543-5543A>C
ENST00000684325.1:c.2186-13353A>C	ENSP00000508121.1:n.2186-13353A>C
ENST00000684385.1:c.2221-5543A>C	ENSP00000507855.1:n.2221-5543A>C
ENST00000684497.1:c.2186-12383A>C	ENSP00000507057.1:n.2186-12383A>C
ENST00000382292.9:c.8849A>C MANE Select	ENSP00000371729.3:p.His2950Pro
ENST00000423156.2:c.2186-5543A>C	ENSP00000390925.2:n.2186-5543A>C
ENST00000455470.6:c.2432-5543A>C	ENSP00000406565.2:n.2432-5543A>C
ENST00000382292.7:c.8849A>C	ENSP00000371729.3:p.His2950Pro
ENST00000382298.7:c.8849A>C	ENSP00000371735.3:p.His2950Pro
ENST00000402364.1:c.6599A>C	ENSP00000385844.1:p.His2200Pro
ENST00000423156.1:c.1058-5543A>C	ENSP00000390925.1:n.1058-5543A>C
ENST00000455470.5:c.2130-5543A>C
NM_001278055.1:c.8408A>C	NP_001264984.1:p.His2803Pro
NM_014363.5:c.8849A>C	NP_055178.3:p.His2950Pro
XM_005266338.1:c.8876A>C	XP_005266395.1:p.His2959Pro
XM_011535038.1:c.8900A>C	XP_011533340.1:p.His2967Pro
XM_011535039.1:c.8867A>C	XP_011533341.1:p.His2956Pro
XM_005266338.2:c.8876A>C	XP_005266395.1:p.His2959Pro
XM_011535039.2:c.8867A>C	XP_011533341.1:p.His2956Pro
XM_017020539.1:c.8840A>C	XP_016876028.1:p.His2947Pro
XM_024449337.1:c.8876A>C	XP_024305105.1:p.His2959Pro
NM_014363.6:c.8849A>C MANE Select	NP_055178.3:p.His2950Pro
NM_001278055.2:c.8408A>C	NP_001264984.1:p.His2803Pro