Canonical Allele Identifier: CA387521146

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911387A>G (hg19) ; chr13:g.23337248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337248A>G , CM000675.2:g.23337248A>G	GRCh38
NC_000013.10:g.23911387A>G , CM000675.1:g.23911387A>G	GRCh37
NC_000013.9:g.22809387A>G	NCBI36
NG_012342.1:g.101455T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16537T>C	ENSP00000508399.1:n.2185+16537T>C
ENST00000682944.1:c.6655T>C	ENSP00000507173.1:p.Tyr2219His
ENST00000683210.1:c.2185+16537T>C	ENSP00000506739.1:n.2185+16537T>C
ENST00000683270.1:c.6445+174T>C	ENSP00000507624.1:n.6445+174T>C
ENST00000683367.1:c.2177-7764T>C	ENSP00000507780.1:n.2177-7764T>C
ENST00000683489.1:c.2291+4337T>C	ENSP00000508403.1:n.2291+4337T>C
ENST00000683680.1:c.2318+4337T>C	ENSP00000507223.1:n.2318+4337T>C
ENST00000684163.1:c.2204-7764T>C	ENSP00000508262.1:n.2204-7764T>C
ENST00000684196.1:n.4543-7764T>C
ENST00000684325.1:c.2186-15574T>C	ENSP00000508121.1:n.2186-15574T>C
ENST00000684385.1:c.2221-7764T>C	ENSP00000507855.1:n.2221-7764T>C
ENST00000684497.1:c.2186-14604T>C	ENSP00000507057.1:n.2186-14604T>C
ENST00000382292.9:c.6628T>C MANE Select	ENSP00000371729.3:p.Tyr2210His
ENST00000423156.2:c.2186-7764T>C	ENSP00000390925.2:n.2186-7764T>C
ENST00000455470.6:c.2431+4197T>C	ENSP00000406565.2:n.2431+4197T>C
ENST00000382292.7:c.6628T>C	ENSP00000371729.3:p.Tyr2210His
ENST00000382298.7:c.6628T>C	ENSP00000371735.3:p.Tyr2210His
ENST00000402364.1:c.4378T>C	ENSP00000385844.1:p.Tyr1460His
ENST00000423156.1:c.1058-7764T>C	ENSP00000390925.1:n.1058-7764T>C
ENST00000455470.5:c.2129+4197T>C
NM_001278055.1:c.6187T>C	NP_001264984.1:p.Tyr2063His
NM_014363.5:c.6628T>C	NP_055178.3:p.Tyr2210His
XM_005266338.1:c.6655T>C	XP_005266395.1:p.Tyr2219His
XM_011535038.1:c.6679T>C	XP_011533340.1:p.Tyr2227His
XM_011535039.1:c.6646T>C	XP_011533341.1:p.Tyr2216His
XM_005266338.2:c.6655T>C	XP_005266395.1:p.Tyr2219His
XM_011535039.2:c.6646T>C	XP_011533341.1:p.Tyr2216His
XM_017020539.1:c.6619T>C	XP_016876028.1:p.Tyr2207His
XM_024449337.1:c.6655T>C	XP_024305105.1:p.Tyr2219His
NM_014363.6:c.6628T>C MANE Select	NP_055178.3:p.Tyr2210His
NM_001278055.2:c.6187T>C	NP_001264984.1:p.Tyr2063His