Canonical Allele Identifier: CA387527919

Gene: SACS

Linked Data

• gnomAD v4: 13-23339144-T-C
• MyVariant Identifiers: chr13:g.23913283T>C (hg19) ; chr13:g.23339144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339144T>C , CM000675.2:g.23339144T>C	GRCh38
NC_000013.10:g.23913283T>C , CM000675.1:g.23913283T>C	GRCh37
NC_000013.9:g.22811283T>C	NCBI36
NG_012342.1:g.99559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14641A>G	ENSP00000508399.1:n.2185+14641A>G
ENST00000682944.1:c.4759A>G	ENSP00000507173.1:p.Met1587Val
ENST00000683210.1:c.2185+14641A>G	ENSP00000506739.1:n.2185+14641A>G
ENST00000683270.1:c.4723A>G	ENSP00000507624.1:p.Met1575Val
ENST00000683367.1:c.2177-9660A>G	ENSP00000507780.1:n.2177-9660A>G
ENST00000683489.1:c.2291+2441A>G	ENSP00000508403.1:n.2291+2441A>G
ENST00000683680.1:c.2318+2441A>G	ENSP00000507223.1:n.2318+2441A>G
ENST00000684163.1:c.2203+7667A>G	ENSP00000508262.1:n.2203+7667A>G
ENST00000684196.1:n.4543-9660A>G
ENST00000684325.1:c.2185+14641A>G	ENSP00000508121.1:n.2185+14641A>G
ENST00000684385.1:c.2220+7667A>G	ENSP00000507855.1:n.2220+7667A>G
ENST00000684497.1:c.2185+14641A>G	ENSP00000507057.1:n.2185+14641A>G
ENST00000382292.9:c.4732A>G MANE Select	ENSP00000371729.3:p.Met1578Val
ENST00000423156.2:c.2186-9660A>G	ENSP00000390925.2:n.2186-9660A>G
ENST00000455470.6:c.2431+2301A>G	ENSP00000406565.2:n.2431+2301A>G
ENST00000382292.7:c.4732A>G	ENSP00000371729.3:p.Met1578Val
ENST00000382298.7:c.4732A>G	ENSP00000371735.3:p.Met1578Val
ENST00000402364.1:c.2482A>G	ENSP00000385844.1:p.Met828Val
ENST00000423156.1:c.1058-9660A>G	ENSP00000390925.1:n.1058-9660A>G
ENST00000455470.5:c.2129+2301A>G
NM_001278055.1:c.4291A>G	NP_001264984.1:p.Met1431Val
NM_014363.5:c.4732A>G	NP_055178.3:p.Met1578Val
XM_005266338.1:c.4759A>G	XP_005266395.1:p.Met1587Val
XM_011535038.1:c.4783A>G	XP_011533340.1:p.Met1595Val
XM_011535039.1:c.4750A>G	XP_011533341.1:p.Met1584Val
XM_005266338.2:c.4759A>G	XP_005266395.1:p.Met1587Val
XM_011535039.2:c.4750A>G	XP_011533341.1:p.Met1584Val
XM_017020539.1:c.4723A>G	XP_016876028.1:p.Met1575Val
XM_024449337.1:c.4759A>G	XP_024305105.1:p.Met1587Val
NM_014363.6:c.4732A>G MANE Select	NP_055178.3:p.Met1578Val
NM_001278055.2:c.4291A>G	NP_001264984.1:p.Met1431Val