Canonical Allele Identifier: CA387523987

Gene: SACS

Linked Data

• gnomAD v4: 13-23337815-A-C
• MyVariant Identifiers: chr13:g.23911954A>C (hg19) ; chr13:g.23337815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337815A>C , CM000675.2:g.23337815A>C	GRCh38
NC_000013.10:g.23911954A>C , CM000675.1:g.23911954A>C	GRCh37
NC_000013.9:g.22809954A>C	NCBI36
NG_012342.1:g.100888T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15970T>G	ENSP00000508399.1:n.2185+15970T>G
ENST00000682944.1:c.6088T>G	ENSP00000507173.1:p.Ser2030Ala
ENST00000683210.1:c.2185+15970T>G	ENSP00000506739.1:n.2185+15970T>G
ENST00000683270.1:c.6052T>G	ENSP00000507624.1:p.Ser2018Ala
ENST00000683367.1:c.2177-8331T>G	ENSP00000507780.1:n.2177-8331T>G
ENST00000683489.1:c.2291+3770T>G	ENSP00000508403.1:n.2291+3770T>G
ENST00000683680.1:c.2318+3770T>G	ENSP00000507223.1:n.2318+3770T>G
ENST00000684163.1:c.2204-8331T>G	ENSP00000508262.1:n.2204-8331T>G
ENST00000684196.1:n.4543-8331T>G
ENST00000684325.1:c.2185+15970T>G	ENSP00000508121.1:n.2185+15970T>G
ENST00000684385.1:c.2221-8331T>G	ENSP00000507855.1:n.2221-8331T>G
ENST00000684497.1:c.2186-15171T>G	ENSP00000507057.1:n.2186-15171T>G
ENST00000382292.9:c.6061T>G MANE Select	ENSP00000371729.3:p.Ser2021Ala
ENST00000423156.2:c.2186-8331T>G	ENSP00000390925.2:n.2186-8331T>G
ENST00000455470.6:c.2431+3630T>G	ENSP00000406565.2:n.2431+3630T>G
ENST00000382292.7:c.6061T>G	ENSP00000371729.3:p.Ser2021Ala
ENST00000382298.7:c.6061T>G	ENSP00000371735.3:p.Ser2021Ala
ENST00000402364.1:c.3811T>G	ENSP00000385844.1:p.Ser1271Ala
ENST00000423156.1:c.1058-8331T>G	ENSP00000390925.1:n.1058-8331T>G
ENST00000455470.5:c.2129+3630T>G
NM_001278055.1:c.5620T>G	NP_001264984.1:p.Ser1874Ala
NM_014363.5:c.6061T>G	NP_055178.3:p.Ser2021Ala
XM_005266338.1:c.6088T>G	XP_005266395.1:p.Ser2030Ala
XM_011535038.1:c.6112T>G	XP_011533340.1:p.Ser2038Ala
XM_011535039.1:c.6079T>G	XP_011533341.1:p.Ser2027Ala
XM_005266338.2:c.6088T>G	XP_005266395.1:p.Ser2030Ala
XM_011535039.2:c.6079T>G	XP_011533341.1:p.Ser2027Ala
XM_017020539.1:c.6052T>G	XP_016876028.1:p.Ser2018Ala
XM_024449337.1:c.6088T>G	XP_024305105.1:p.Ser2030Ala
NM_014363.6:c.6061T>G MANE Select	NP_055178.3:p.Ser2021Ala
NM_001278055.2:c.5620T>G	NP_001264984.1:p.Ser1874Ala