Canonical Allele Identifier: CA483160133

Gene: SACS

Linked Data

• ClinVar Variation Id: 2147033
• ClinVar RCV Id: RCV003076982
• dbSNP Id: rs1480222599
• gnomAD v2: 13-23909432-A-G
• gnomAD v3: 13-23335293-A-G
• gnomAD v4: 13-23335293-A-G
• MyVariant Identifiers: chr13:g.23909432A>G (hg19) ; chr13:g.23335293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335293A>G , CM000675.2:g.23335293A>G	GRCh38
NC_000013.10:g.23909432A>G , CM000675.1:g.23909432A>G	GRCh37
NC_000013.9:g.22807432A>G	NCBI36
NG_012342.1:g.103410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18492T>C	ENSP00000508399.1:n.2185+18492T>C
ENST00000682944.1:c.8610T>C	ENSP00000507173.1:p.Tyr2870=
ENST00000683210.1:c.2185+18492T>C	ENSP00000506739.1:n.2185+18492T>C
ENST00000683270.1:c.6445+2129T>C	ENSP00000507624.1:n.6445+2129T>C
ENST00000683367.1:c.2177-5809T>C	ENSP00000507780.1:n.2177-5809T>C
ENST00000683489.1:c.2292-5341T>C	ENSP00000508403.1:n.2292-5341T>C
ENST00000683680.1:c.2319-5341T>C	ENSP00000507223.1:n.2319-5341T>C
ENST00000684163.1:c.2204-5809T>C	ENSP00000508262.1:n.2204-5809T>C
ENST00000684196.1:n.4543-5809T>C
ENST00000684325.1:c.2186-13619T>C	ENSP00000508121.1:n.2186-13619T>C
ENST00000684385.1:c.2221-5809T>C	ENSP00000507855.1:n.2221-5809T>C
ENST00000684497.1:c.2186-12649T>C	ENSP00000507057.1:n.2186-12649T>C
ENST00000382292.9:c.8583T>C MANE Select	ENSP00000371729.3:p.Tyr2861=
ENST00000423156.2:c.2186-5809T>C	ENSP00000390925.2:n.2186-5809T>C
ENST00000455470.6:c.2432-5809T>C	ENSP00000406565.2:n.2432-5809T>C
ENST00000382292.7:c.8583T>C	ENSP00000371729.3:p.Tyr2861=
ENST00000382298.7:c.8583T>C	ENSP00000371735.3:p.Tyr2861=
ENST00000402364.1:c.6333T>C	ENSP00000385844.1:p.Tyr2111=
ENST00000423156.1:c.1058-5809T>C	ENSP00000390925.1:n.1058-5809T>C
ENST00000455470.5:c.2130-5809T>C
NM_001278055.1:c.8142T>C	NP_001264984.1:p.Tyr2714=
NM_014363.5:c.8583T>C	NP_055178.3:p.Tyr2861=
XM_005266338.1:c.8610T>C	XP_005266395.1:p.Tyr2870=
XM_011535038.1:c.8634T>C	XP_011533340.1:p.Tyr2878=
XM_011535039.1:c.8601T>C	XP_011533341.1:p.Tyr2867=
XM_005266338.2:c.8610T>C	XP_005266395.1:p.Tyr2870=
XM_011535039.2:c.8601T>C	XP_011533341.1:p.Tyr2867=
XM_017020539.1:c.8574T>C	XP_016876028.1:p.Tyr2858=
XM_024449337.1:c.8610T>C	XP_024305105.1:p.Tyr2870=
NM_014363.6:c.8583T>C MANE Select	NP_055178.3:p.Tyr2861=
NM_001278055.2:c.8142T>C	NP_001264984.1:p.Tyr2714=