Canonical Allele Identifier: CA6911260

Gene: SACS

Linked Data

• dbSNP Id: rs763496360
• ExAC: 13:23912659 C / G
• gnomAD v2: 13-23912659-C-G
• gnomAD v4: 13-23338520-C-G
• MyVariant Identifiers: chr13:g.23912659C>G (hg19) ; chr13:g.23338520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338520C>G , CM000675.2:g.23338520C>G	GRCh38
NC_000013.10:g.23912659C>G , CM000675.1:g.23912659C>G	GRCh37
NC_000013.9:g.22810659C>G	NCBI36
NG_012342.1:g.100183G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15265G>C	ENSP00000508399.1:n.2185+15265G>C
ENST00000682944.1:c.5383G>C	ENSP00000507173.1:p.Asp1795His
ENST00000683210.1:c.2185+15265G>C	ENSP00000506739.1:n.2185+15265G>C
ENST00000683270.1:c.5347G>C	ENSP00000507624.1:p.Asp1783His
ENST00000683367.1:c.2177-9036G>C	ENSP00000507780.1:n.2177-9036G>C
ENST00000683489.1:c.2291+3065G>C	ENSP00000508403.1:n.2291+3065G>C
ENST00000683680.1:c.2318+3065G>C	ENSP00000507223.1:n.2318+3065G>C
ENST00000684163.1:c.2203+8291G>C	ENSP00000508262.1:n.2203+8291G>C
ENST00000684196.1:n.4543-9036G>C
ENST00000684325.1:c.2185+15265G>C	ENSP00000508121.1:n.2185+15265G>C
ENST00000684385.1:c.2220+8291G>C	ENSP00000507855.1:n.2220+8291G>C
ENST00000684497.1:c.2185+15265G>C	ENSP00000507057.1:n.2185+15265G>C
ENST00000382292.9:c.5356G>C MANE Select	ENSP00000371729.3:p.Asp1786His
ENST00000423156.2:c.2186-9036G>C	ENSP00000390925.2:n.2186-9036G>C
ENST00000455470.6:c.2431+2925G>C	ENSP00000406565.2:n.2431+2925G>C
ENST00000382292.7:c.5356G>C	ENSP00000371729.3:p.Asp1786His
ENST00000382298.7:c.5356G>C	ENSP00000371735.3:p.Asp1786His
ENST00000402364.1:c.3106G>C	ENSP00000385844.1:p.Asp1036His
ENST00000423156.1:c.1058-9036G>C	ENSP00000390925.1:n.1058-9036G>C
ENST00000455470.5:c.2129+2925G>C
NM_001278055.1:c.4915G>C	NP_001264984.1:p.Asp1639His
NM_014363.5:c.5356G>C	NP_055178.3:p.Asp1786His
XM_005266338.1:c.5383G>C	XP_005266395.1:p.Asp1795His
XM_011535038.1:c.5407G>C	XP_011533340.1:p.Asp1803His
XM_011535039.1:c.5374G>C	XP_011533341.1:p.Asp1792His
XM_005266338.2:c.5383G>C	XP_005266395.1:p.Asp1795His
XM_011535039.2:c.5374G>C	XP_011533341.1:p.Asp1792His
XM_017020539.1:c.5347G>C	XP_016876028.1:p.Asp1783His
XM_024449337.1:c.5383G>C	XP_024305105.1:p.Asp1795His
NM_014363.6:c.5356G>C MANE Select	NP_055178.3:p.Asp1786His
NM_001278055.2:c.4915G>C	NP_001264984.1:p.Asp1639His