Canonical Allele Identifier: CA387515553

Gene: SACS

Linked Data

• dbSNP Id: rs1593125704
• COSMIC: COSM4627169 ; COSM4627170
• MyVariant Identifiers: chr13:g.23909082A>G (hg19) ; chr13:g.23334943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334943A>G , CM000675.2:g.23334943A>G	GRCh38
NC_000013.10:g.23909082A>G , CM000675.1:g.23909082A>G	GRCh37
NC_000013.9:g.22807082A>G	NCBI36
NG_012342.1:g.103760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18842T>C	ENSP00000508399.1:n.2185+18842T>C
ENST00000682944.1:c.8960T>C	ENSP00000507173.1:p.Val2987Ala
ENST00000683210.1:c.2185+18842T>C	ENSP00000506739.1:n.2185+18842T>C
ENST00000683270.1:c.6445+2479T>C	ENSP00000507624.1:n.6445+2479T>C
ENST00000683367.1:c.2177-5459T>C	ENSP00000507780.1:n.2177-5459T>C
ENST00000683489.1:c.2292-4991T>C	ENSP00000508403.1:n.2292-4991T>C
ENST00000683680.1:c.2319-4991T>C	ENSP00000507223.1:n.2319-4991T>C
ENST00000684163.1:c.2204-5459T>C	ENSP00000508262.1:n.2204-5459T>C
ENST00000684196.1:n.4543-5459T>C
ENST00000684325.1:c.2186-13269T>C	ENSP00000508121.1:n.2186-13269T>C
ENST00000684385.1:c.2221-5459T>C	ENSP00000507855.1:n.2221-5459T>C
ENST00000684497.1:c.2186-12299T>C	ENSP00000507057.1:n.2186-12299T>C
ENST00000382292.9:c.8933T>C MANE Select	ENSP00000371729.3:p.Val2978Ala
ENST00000423156.2:c.2186-5459T>C	ENSP00000390925.2:n.2186-5459T>C
ENST00000455470.6:c.2432-5459T>C	ENSP00000406565.2:n.2432-5459T>C
ENST00000382292.7:c.8933T>C	ENSP00000371729.3:p.Val2978Ala
ENST00000382298.7:c.8933T>C	ENSP00000371735.3:p.Val2978Ala
ENST00000402364.1:c.6683T>C	ENSP00000385844.1:p.Val2228Ala
ENST00000423156.1:c.1058-5459T>C	ENSP00000390925.1:n.1058-5459T>C
ENST00000455470.5:c.2130-5459T>C
NM_001278055.1:c.8492T>C	NP_001264984.1:p.Val2831Ala
NM_014363.5:c.8933T>C	NP_055178.3:p.Val2978Ala
XM_005266338.1:c.8960T>C	XP_005266395.1:p.Val2987Ala
XM_011535038.1:c.8984T>C	XP_011533340.1:p.Val2995Ala
XM_011535039.1:c.8951T>C	XP_011533341.1:p.Val2984Ala
XM_005266338.2:c.8960T>C	XP_005266395.1:p.Val2987Ala
XM_011535039.2:c.8951T>C	XP_011533341.1:p.Val2984Ala
XM_017020539.1:c.8924T>C	XP_016876028.1:p.Val2975Ala
XM_024449337.1:c.8960T>C	XP_024305105.1:p.Val2987Ala
NM_014363.6:c.8933T>C MANE Select	NP_055178.3:p.Val2978Ala
NM_001278055.2:c.8492T>C	NP_001264984.1:p.Val2831Ala