Canonical Allele Identifier: CA387525962

Gene: SACS

Linked Data

• gnomAD v4: 13-23338572-G-C
• MyVariant Identifiers: chr13:g.23912711G>C (hg19) ; chr13:g.23338572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338572G>C , CM000675.2:g.23338572G>C	GRCh38
NC_000013.10:g.23912711G>C , CM000675.1:g.23912711G>C	GRCh37
NC_000013.9:g.22810711G>C	NCBI36
NG_012342.1:g.100131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15213C>G	ENSP00000508399.1:n.2185+15213C>G
ENST00000682944.1:c.5331C>G	ENSP00000507173.1:p.His1777Gln
ENST00000683210.1:c.2185+15213C>G	ENSP00000506739.1:n.2185+15213C>G
ENST00000683270.1:c.5295C>G	ENSP00000507624.1:p.His1765Gln
ENST00000683367.1:c.2177-9088C>G	ENSP00000507780.1:n.2177-9088C>G
ENST00000683489.1:c.2291+3013C>G	ENSP00000508403.1:n.2291+3013C>G
ENST00000683680.1:c.2318+3013C>G	ENSP00000507223.1:n.2318+3013C>G
ENST00000684163.1:c.2203+8239C>G	ENSP00000508262.1:n.2203+8239C>G
ENST00000684196.1:n.4543-9088C>G
ENST00000684325.1:c.2185+15213C>G	ENSP00000508121.1:n.2185+15213C>G
ENST00000684385.1:c.2220+8239C>G	ENSP00000507855.1:n.2220+8239C>G
ENST00000684497.1:c.2185+15213C>G	ENSP00000507057.1:n.2185+15213C>G
ENST00000382292.9:c.5304C>G MANE Select	ENSP00000371729.3:p.His1768Gln
ENST00000423156.2:c.2186-9088C>G	ENSP00000390925.2:n.2186-9088C>G
ENST00000455470.6:c.2431+2873C>G	ENSP00000406565.2:n.2431+2873C>G
ENST00000382292.7:c.5304C>G	ENSP00000371729.3:p.His1768Gln
ENST00000382298.7:c.5304C>G	ENSP00000371735.3:p.His1768Gln
ENST00000402364.1:c.3054C>G	ENSP00000385844.1:p.His1018Gln
ENST00000423156.1:c.1058-9088C>G	ENSP00000390925.1:n.1058-9088C>G
ENST00000455470.5:c.2129+2873C>G
NM_001278055.1:c.4863C>G	NP_001264984.1:p.His1621Gln
NM_014363.5:c.5304C>G	NP_055178.3:p.His1768Gln
XM_005266338.1:c.5331C>G	XP_005266395.1:p.His1777Gln
XM_011535038.1:c.5355C>G	XP_011533340.1:p.His1785Gln
XM_011535039.1:c.5322C>G	XP_011533341.1:p.His1774Gln
XM_005266338.2:c.5331C>G	XP_005266395.1:p.His1777Gln
XM_011535039.2:c.5322C>G	XP_011533341.1:p.His1774Gln
XM_017020539.1:c.5295C>G	XP_016876028.1:p.His1765Gln
XM_024449337.1:c.5331C>G	XP_024305105.1:p.His1777Gln
NM_014363.6:c.5304C>G MANE Select	NP_055178.3:p.His1768Gln
NM_001278055.2:c.4863C>G	NP_001264984.1:p.His1621Gln