Canonical Allele Identifier: CA483159940

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909038A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334899A>G , CM000675.2:g.23334899A>G	GRCh38
NC_000013.10:g.23909038A>G , CM000675.1:g.23909038A>G	GRCh37
NC_000013.9:g.22807038A>G	NCBI36
NG_012342.1:g.103804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18886T>C	ENSP00000508399.1:n.2185+18886T>C
ENST00000682944.1:c.9004T>C	ENSP00000507173.1:p.Leu3002=
ENST00000683210.1:c.2185+18886T>C	ENSP00000506739.1:n.2185+18886T>C
ENST00000683270.1:c.6445+2523T>C	ENSP00000507624.1:n.6445+2523T>C
ENST00000683367.1:c.2177-5415T>C	ENSP00000507780.1:n.2177-5415T>C
ENST00000683489.1:c.2292-4947T>C	ENSP00000508403.1:n.2292-4947T>C
ENST00000683680.1:c.2319-4947T>C	ENSP00000507223.1:n.2319-4947T>C
ENST00000684163.1:c.2204-5415T>C	ENSP00000508262.1:n.2204-5415T>C
ENST00000684196.1:n.4543-5415T>C
ENST00000684325.1:c.2186-13225T>C	ENSP00000508121.1:n.2186-13225T>C
ENST00000684385.1:c.2221-5415T>C	ENSP00000507855.1:n.2221-5415T>C
ENST00000684497.1:c.2186-12255T>C	ENSP00000507057.1:n.2186-12255T>C
ENST00000382292.9:c.8977T>C MANE Select	ENSP00000371729.3:p.Leu2993=
ENST00000423156.2:c.2186-5415T>C	ENSP00000390925.2:n.2186-5415T>C
ENST00000455470.6:c.2432-5415T>C	ENSP00000406565.2:n.2432-5415T>C
ENST00000382292.7:c.8977T>C	ENSP00000371729.3:p.Leu2993=
ENST00000382298.7:c.8977T>C	ENSP00000371735.3:p.Leu2993=
ENST00000402364.1:c.6727T>C	ENSP00000385844.1:p.Leu2243=
ENST00000423156.1:c.1058-5415T>C	ENSP00000390925.1:n.1058-5415T>C
ENST00000455470.5:c.2130-5415T>C
NM_001278055.1:c.8536T>C	NP_001264984.1:p.Leu2846=
NM_014363.5:c.8977T>C	NP_055178.3:p.Leu2993=
XM_005266338.1:c.9004T>C	XP_005266395.1:p.Leu3002=
XM_011535038.1:c.9028T>C	XP_011533340.1:p.Leu3010=
XM_011535039.1:c.8995T>C	XP_011533341.1:p.Leu2999=
XM_005266338.2:c.9004T>C	XP_005266395.1:p.Leu3002=
XM_011535039.2:c.8995T>C	XP_011533341.1:p.Leu2999=
XM_017020539.1:c.8968T>C	XP_016876028.1:p.Leu2990=
XM_024449337.1:c.9004T>C	XP_024305105.1:p.Leu3002=
NM_014363.6:c.8977T>C MANE Select	NP_055178.3:p.Leu2993=
NM_001278055.2:c.8536T>C	NP_001264984.1:p.Leu2846=