Canonical Allele Identifier: CA387506160

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904985T>G (hg19) ; chr13:g.23330846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330846T>G , CM000675.2:g.23330846T>G	GRCh38
NC_000013.10:g.23904985T>G , CM000675.1:g.23904985T>G	GRCh37
NC_000013.9:g.22802985T>G	NCBI36
NG_012342.1:g.107857A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18731A>C	ENSP00000508399.1:n.2186-18731A>C
ENST00000682944.1:c.13057A>C	ENSP00000507173.1:p.Asn4353His
ENST00000683210.1:c.2185+22939A>C	ENSP00000506739.1:n.2185+22939A>C
ENST00000683270.1:c.6446-1362A>C	ENSP00000507624.1:n.6446-1362A>C
ENST00000683367.1:c.2177-1362A>C	ENSP00000507780.1:n.2177-1362A>C
ENST00000683489.1:c.2292-894A>C	ENSP00000508403.1:n.2292-894A>C
ENST00000683680.1:c.2319-894A>C	ENSP00000507223.1:n.2319-894A>C
ENST00000684163.1:c.2204-1362A>C	ENSP00000508262.1:n.2204-1362A>C
ENST00000684196.1:n.4543-1362A>C
ENST00000684325.1:c.2186-9172A>C	ENSP00000508121.1:n.2186-9172A>C
ENST00000684385.1:c.2221-1362A>C	ENSP00000507855.1:n.2221-1362A>C
ENST00000684497.1:c.2186-8202A>C	ENSP00000507057.1:n.2186-8202A>C
ENST00000382292.9:c.13030A>C MANE Select	ENSP00000371729.3:p.Asn4344His
ENST00000423156.2:c.2186-1362A>C	ENSP00000390925.2:n.2186-1362A>C
ENST00000455470.6:c.2432-1362A>C	ENSP00000406565.2:n.2432-1362A>C
ENST00000382292.7:c.13030A>C	ENSP00000371729.3:p.Asn4344His
ENST00000382298.7:c.13030A>C	ENSP00000371735.3:p.Asn4344His
ENST00000402364.1:c.10780A>C	ENSP00000385844.1:p.Asn3594His
ENST00000423156.1:c.1058-1362A>C	ENSP00000390925.1:n.1058-1362A>C
ENST00000455470.5:c.2130-1362A>C
NM_001278055.1:c.12589A>C	NP_001264984.1:p.Asn4197His
NM_014363.5:c.13030A>C	NP_055178.3:p.Asn4344His
XM_005266338.1:c.13057A>C	XP_005266395.1:p.Asn4353His
XM_011535038.1:c.13081A>C	XP_011533340.1:p.Asn4361His
XM_011535039.1:c.13048A>C	XP_011533341.1:p.Asn4350His
XM_005266338.2:c.13057A>C	XP_005266395.1:p.Asn4353His
XM_011535039.2:c.13048A>C	XP_011533341.1:p.Asn4350His
XM_017020539.1:c.13021A>C	XP_016876028.1:p.Asn4341His
XM_024449337.1:c.13057A>C	XP_024305105.1:p.Asn4353His
NM_014363.6:c.13030A>C MANE Select	NP_055178.3:p.Asn4344His
NM_001278055.2:c.12589A>C	NP_001264984.1:p.Asn4197His