Canonical Allele Identifier: CA387514818

Gene: SACS

Linked Data

• dbSNP Id: rs1330288230
• gnomAD v3: 13-23334611-G-C
• gnomAD v4: 13-23334611-G-C
• MyVariant Identifiers: chr13:g.23908750G>C (hg19) ; chr13:g.23334611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334611G>C , CM000675.2:g.23334611G>C	GRCh38
NC_000013.10:g.23908750G>C , CM000675.1:g.23908750G>C	GRCh37
NC_000013.9:g.22806750G>C	NCBI36
NG_012342.1:g.104092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19174C>G	ENSP00000508399.1:n.2185+19174C>G
ENST00000682944.1:c.9292C>G	ENSP00000507173.1:p.Pro3098Ala
ENST00000683210.1:c.2185+19174C>G	ENSP00000506739.1:n.2185+19174C>G
ENST00000683270.1:c.6445+2811C>G	ENSP00000507624.1:n.6445+2811C>G
ENST00000683367.1:c.2177-5127C>G	ENSP00000507780.1:n.2177-5127C>G
ENST00000683489.1:c.2292-4659C>G	ENSP00000508403.1:n.2292-4659C>G
ENST00000683680.1:c.2319-4659C>G	ENSP00000507223.1:n.2319-4659C>G
ENST00000684163.1:c.2204-5127C>G	ENSP00000508262.1:n.2204-5127C>G
ENST00000684196.1:n.4543-5127C>G
ENST00000684325.1:c.2186-12937C>G	ENSP00000508121.1:n.2186-12937C>G
ENST00000684385.1:c.2221-5127C>G	ENSP00000507855.1:n.2221-5127C>G
ENST00000684497.1:c.2186-11967C>G	ENSP00000507057.1:n.2186-11967C>G
ENST00000382292.9:c.9265C>G MANE Select	ENSP00000371729.3:p.Pro3089Ala
ENST00000423156.2:c.2186-5127C>G	ENSP00000390925.2:n.2186-5127C>G
ENST00000455470.6:c.2432-5127C>G	ENSP00000406565.2:n.2432-5127C>G
ENST00000382292.7:c.9265C>G	ENSP00000371729.3:p.Pro3089Ala
ENST00000382298.7:c.9265C>G	ENSP00000371735.3:p.Pro3089Ala
ENST00000402364.1:c.7015C>G	ENSP00000385844.1:p.Pro2339Ala
ENST00000423156.1:c.1058-5127C>G	ENSP00000390925.1:n.1058-5127C>G
ENST00000455470.5:c.2130-5127C>G
NM_001278055.1:c.8824C>G	NP_001264984.1:p.Pro2942Ala
NM_014363.5:c.9265C>G	NP_055178.3:p.Pro3089Ala
XM_005266338.1:c.9292C>G	XP_005266395.1:p.Pro3098Ala
XM_011535038.1:c.9316C>G	XP_011533340.1:p.Pro3106Ala
XM_011535039.1:c.9283C>G	XP_011533341.1:p.Pro3095Ala
XM_005266338.2:c.9292C>G	XP_005266395.1:p.Pro3098Ala
XM_011535039.2:c.9283C>G	XP_011533341.1:p.Pro3095Ala
XM_017020539.1:c.9256C>G	XP_016876028.1:p.Pro3086Ala
XM_024449337.1:c.9292C>G	XP_024305105.1:p.Pro3098Ala
NM_014363.6:c.9265C>G MANE Select	NP_055178.3:p.Pro3089Ala
NM_001278055.2:c.8824C>G	NP_001264984.1:p.Pro2942Ala