Canonical Allele Identifier: CA387513952

Gene: SACS

Linked Data

• ClinVar Variation Id: 1321426
• ClinVar RCV Id: RCV001779520
• dbSNP Id: rs2137582138
• MyVariant Identifiers: chr13:g.23908362A>C (hg19) ; chr13:g.23334223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334223A>C , CM000675.2:g.23334223A>C	GRCh38
NC_000013.10:g.23908362A>C , CM000675.1:g.23908362A>C	GRCh37
NC_000013.9:g.22806362A>C	NCBI36
NG_012342.1:g.104480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19562T>G	ENSP00000508399.1:n.2185+19562T>G
ENST00000682944.1:c.9680T>G	ENSP00000507173.1:p.Leu3227Ter
ENST00000683210.1:c.2185+19562T>G	ENSP00000506739.1:n.2185+19562T>G
ENST00000683270.1:c.6445+3199T>G	ENSP00000507624.1:n.6445+3199T>G
ENST00000683367.1:c.2177-4739T>G	ENSP00000507780.1:n.2177-4739T>G
ENST00000683489.1:c.2292-4271T>G	ENSP00000508403.1:n.2292-4271T>G
ENST00000683680.1:c.2319-4271T>G	ENSP00000507223.1:n.2319-4271T>G
ENST00000684163.1:c.2204-4739T>G	ENSP00000508262.1:n.2204-4739T>G
ENST00000684196.1:n.4543-4739T>G
ENST00000684325.1:c.2186-12549T>G	ENSP00000508121.1:n.2186-12549T>G
ENST00000684385.1:c.2221-4739T>G	ENSP00000507855.1:n.2221-4739T>G
ENST00000684497.1:c.2186-11579T>G	ENSP00000507057.1:n.2186-11579T>G
ENST00000382292.9:c.9653T>G MANE Select	ENSP00000371729.3:p.Leu3218Ter
ENST00000423156.2:c.2186-4739T>G	ENSP00000390925.2:n.2186-4739T>G
ENST00000455470.6:c.2432-4739T>G	ENSP00000406565.2:n.2432-4739T>G
ENST00000382292.7:c.9653T>G	ENSP00000371729.3:p.Leu3218Ter
ENST00000382298.7:c.9653T>G	ENSP00000371735.3:p.Leu3218Ter
ENST00000402364.1:c.7403T>G	ENSP00000385844.1:p.Leu2468Ter
ENST00000423156.1:c.1058-4739T>G	ENSP00000390925.1:n.1058-4739T>G
ENST00000455470.5:c.2130-4739T>G
NM_001278055.1:c.9212T>G	NP_001264984.1:p.Leu3071Ter
NM_014363.5:c.9653T>G	NP_055178.3:p.Leu3218Ter
XM_005266338.1:c.9680T>G	XP_005266395.1:p.Leu3227Ter
XM_011535038.1:c.9704T>G	XP_011533340.1:p.Leu3235Ter
XM_011535039.1:c.9671T>G	XP_011533341.1:p.Leu3224Ter
XM_005266338.2:c.9680T>G	XP_005266395.1:p.Leu3227Ter
XM_011535039.2:c.9671T>G	XP_011533341.1:p.Leu3224Ter
XM_017020539.1:c.9644T>G	XP_016876028.1:p.Leu3215Ter
XM_024449337.1:c.9680T>G	XP_024305105.1:p.Leu3227Ter
NM_014363.6:c.9653T>G MANE Select	NP_055178.3:p.Leu3218Ter
NM_001278055.2:c.9212T>G	NP_001264984.1:p.Leu3071Ter