Canonical Allele Identifier: CA387516842

Gene: SACS

Linked Data

• dbSNP Id: rs61742500
• gnomAD v4: 13-23335531-G-C
• MyVariant Identifiers: chr13:g.23909670G>C (hg19) ; chr13:g.23335531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335531G>C , CM000675.2:g.23335531G>C	GRCh38
NC_000013.10:g.23909670G>C , CM000675.1:g.23909670G>C	GRCh37
NC_000013.9:g.22807670G>C	NCBI36
NG_012342.1:g.103172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18254C>G	ENSP00000508399.1:n.2185+18254C>G
ENST00000682944.1:c.8372C>G	ENSP00000507173.1:p.Ala2791Gly
ENST00000683210.1:c.2185+18254C>G	ENSP00000506739.1:n.2185+18254C>G
ENST00000683270.1:c.6445+1891C>G	ENSP00000507624.1:n.6445+1891C>G
ENST00000683367.1:c.2177-6047C>G	ENSP00000507780.1:n.2177-6047C>G
ENST00000683489.1:c.2292-5579C>G	ENSP00000508403.1:n.2292-5579C>G
ENST00000683680.1:c.2319-5579C>G	ENSP00000507223.1:n.2319-5579C>G
ENST00000684163.1:c.2204-6047C>G	ENSP00000508262.1:n.2204-6047C>G
ENST00000684196.1:n.4543-6047C>G
ENST00000684325.1:c.2186-13857C>G	ENSP00000508121.1:n.2186-13857C>G
ENST00000684385.1:c.2221-6047C>G	ENSP00000507855.1:n.2221-6047C>G
ENST00000684497.1:c.2186-12887C>G	ENSP00000507057.1:n.2186-12887C>G
ENST00000382292.9:c.8345C>G MANE Select	ENSP00000371729.3:p.Ala2782Gly
ENST00000423156.2:c.2186-6047C>G	ENSP00000390925.2:n.2186-6047C>G
ENST00000455470.6:c.2431+5914C>G	ENSP00000406565.2:n.2431+5914C>G
ENST00000382292.7:c.8345C>G	ENSP00000371729.3:p.Ala2782Gly
ENST00000382298.7:c.8345C>G	ENSP00000371735.3:p.Ala2782Gly
ENST00000402364.1:c.6095C>G	ENSP00000385844.1:p.Ala2032Gly
ENST00000423156.1:c.1058-6047C>G	ENSP00000390925.1:n.1058-6047C>G
ENST00000455470.5:c.2129+5914C>G
NM_001278055.1:c.7904C>G	NP_001264984.1:p.Ala2635Gly
NM_014363.5:c.8345C>G	NP_055178.3:p.Ala2782Gly
XM_005266338.1:c.8372C>G	XP_005266395.1:p.Ala2791Gly
XM_011535038.1:c.8396C>G	XP_011533340.1:p.Ala2799Gly
XM_011535039.1:c.8363C>G	XP_011533341.1:p.Ala2788Gly
XM_005266338.2:c.8372C>G	XP_005266395.1:p.Ala2791Gly
XM_011535039.2:c.8363C>G	XP_011533341.1:p.Ala2788Gly
XM_017020539.1:c.8336C>G	XP_016876028.1:p.Ala2779Gly
XM_024449337.1:c.8372C>G	XP_024305105.1:p.Ala2791Gly
NM_014363.6:c.8345C>G MANE Select	NP_055178.3:p.Ala2782Gly
NM_001278055.2:c.7904C>G	NP_001264984.1:p.Ala2635Gly