Canonical Allele Identifier: CA6911179

Gene: SACS

Linked Data

• dbSNP Id: rs763841265
• ExAC: 13:23912119 C / G
• gnomAD v2: 13-23912119-C-G
• gnomAD v4: 13-23337980-C-G
• MyVariant Identifiers: chr13:g.23912119C>G (hg19) ; chr13:g.23337980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337980C>G , CM000675.2:g.23337980C>G	GRCh38
NC_000013.10:g.23912119C>G , CM000675.1:g.23912119C>G	GRCh37
NC_000013.9:g.22810119C>G	NCBI36
NG_012342.1:g.100723G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15805G>C	ENSP00000508399.1:n.2185+15805G>C
ENST00000682944.1:c.5923G>C	ENSP00000507173.1:p.Asp1975His
ENST00000683210.1:c.2185+15805G>C	ENSP00000506739.1:n.2185+15805G>C
ENST00000683270.1:c.5887G>C	ENSP00000507624.1:p.Asp1963His
ENST00000683367.1:c.2177-8496G>C	ENSP00000507780.1:n.2177-8496G>C
ENST00000683489.1:c.2291+3605G>C	ENSP00000508403.1:n.2291+3605G>C
ENST00000683680.1:c.2318+3605G>C	ENSP00000507223.1:n.2318+3605G>C
ENST00000684163.1:c.2204-8496G>C	ENSP00000508262.1:n.2204-8496G>C
ENST00000684196.1:n.4543-8496G>C
ENST00000684325.1:c.2185+15805G>C	ENSP00000508121.1:n.2185+15805G>C
ENST00000684385.1:c.2221-8496G>C	ENSP00000507855.1:n.2221-8496G>C
ENST00000684497.1:c.2186-15336G>C	ENSP00000507057.1:n.2186-15336G>C
ENST00000382292.9:c.5896G>C MANE Select	ENSP00000371729.3:p.Asp1966His
ENST00000423156.2:c.2186-8496G>C	ENSP00000390925.2:n.2186-8496G>C
ENST00000455470.6:c.2431+3465G>C	ENSP00000406565.2:n.2431+3465G>C
ENST00000382292.7:c.5896G>C	ENSP00000371729.3:p.Asp1966His
ENST00000382298.7:c.5896G>C	ENSP00000371735.3:p.Asp1966His
ENST00000402364.1:c.3646G>C	ENSP00000385844.1:p.Asp1216His
ENST00000423156.1:c.1058-8496G>C	ENSP00000390925.1:n.1058-8496G>C
ENST00000455470.5:c.2129+3465G>C
NM_001278055.1:c.5455G>C	NP_001264984.1:p.Asp1819His
NM_014363.5:c.5896G>C	NP_055178.3:p.Asp1966His
XM_005266338.1:c.5923G>C	XP_005266395.1:p.Asp1975His
XM_011535038.1:c.5947G>C	XP_011533340.1:p.Asp1983His
XM_011535039.1:c.5914G>C	XP_011533341.1:p.Asp1972His
XM_005266338.2:c.5923G>C	XP_005266395.1:p.Asp1975His
XM_011535039.2:c.5914G>C	XP_011533341.1:p.Asp1972His
XM_017020539.1:c.5887G>C	XP_016876028.1:p.Asp1963His
XM_024449337.1:c.5923G>C	XP_024305105.1:p.Asp1975His
NM_014363.6:c.5896G>C MANE Select	NP_055178.3:p.Asp1966His
NM_001278055.2:c.5455G>C	NP_001264984.1:p.Asp1819His