Canonical Allele Identifier: CA387505922

Gene: SACS

Linked Data

• gnomAD v4: 13-23330741-T-G
• MyVariant Identifiers: chr13:g.23904880T>G (hg19) ; chr13:g.23330741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330741T>G , CM000675.2:g.23330741T>G	GRCh38
NC_000013.10:g.23904880T>G , CM000675.1:g.23904880T>G	GRCh37
NC_000013.9:g.22802880T>G	NCBI36
NG_012342.1:g.107962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18626A>C	ENSP00000508399.1:n.2186-18626A>C
ENST00000682944.1:c.13162A>C	ENSP00000507173.1:p.Thr4388Pro
ENST00000683210.1:c.2185+23044A>C	ENSP00000506739.1:n.2185+23044A>C
ENST00000683270.1:c.6446-1257A>C	ENSP00000507624.1:n.6446-1257A>C
ENST00000683367.1:c.2177-1257A>C	ENSP00000507780.1:n.2177-1257A>C
ENST00000683489.1:c.2292-789A>C	ENSP00000508403.1:n.2292-789A>C
ENST00000683680.1:c.2319-789A>C	ENSP00000507223.1:n.2319-789A>C
ENST00000684163.1:c.2204-1257A>C	ENSP00000508262.1:n.2204-1257A>C
ENST00000684196.1:n.4543-1257A>C
ENST00000684325.1:c.2186-9067A>C	ENSP00000508121.1:n.2186-9067A>C
ENST00000684385.1:c.2221-1257A>C	ENSP00000507855.1:n.2221-1257A>C
ENST00000684497.1:c.2186-8097A>C	ENSP00000507057.1:n.2186-8097A>C
ENST00000382292.9:c.13135A>C MANE Select	ENSP00000371729.3:p.Thr4379Pro
ENST00000423156.2:c.2186-1257A>C	ENSP00000390925.2:n.2186-1257A>C
ENST00000455470.6:c.2432-1257A>C	ENSP00000406565.2:n.2432-1257A>C
ENST00000382292.7:c.13135A>C	ENSP00000371729.3:p.Thr4379Pro
ENST00000382298.7:c.13135A>C	ENSP00000371735.3:p.Thr4379Pro
ENST00000402364.1:c.10885A>C	ENSP00000385844.1:p.Thr3629Pro
ENST00000423156.1:c.1058-1257A>C	ENSP00000390925.1:n.1058-1257A>C
ENST00000455470.5:c.2130-1257A>C
NM_001278055.1:c.12694A>C	NP_001264984.1:p.Thr4232Pro
NM_014363.5:c.13135A>C	NP_055178.3:p.Thr4379Pro
XM_005266338.1:c.13162A>C	XP_005266395.1:p.Thr4388Pro
XM_011535038.1:c.13186A>C	XP_011533340.1:p.Thr4396Pro
XM_011535039.1:c.13153A>C	XP_011533341.1:p.Thr4385Pro
XM_005266338.2:c.13162A>C	XP_005266395.1:p.Thr4388Pro
XM_011535039.2:c.13153A>C	XP_011533341.1:p.Thr4385Pro
XM_017020539.1:c.13126A>C	XP_016876028.1:p.Thr4376Pro
XM_024449337.1:c.13162A>C	XP_024305105.1:p.Thr4388Pro
NM_014363.6:c.13135A>C MANE Select	NP_055178.3:p.Thr4379Pro
NM_001278055.2:c.12694A>C	NP_001264984.1:p.Thr4232Pro