Canonical Allele Identifier: CA246651822

Gene: SACS

Linked Data

• dbSNP Id: rs369637137
• gnomAD v2: 13-23907026-G-T
• gnomAD v3: 13-23332887-G-T
• gnomAD v4: 13-23332887-G-T
• MyVariant Identifiers: chr13:g.23907026G>T (hg19) ; chr13:g.23332887G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332887G>T , CM000675.2:g.23332887G>T	GRCh38
NC_000013.10:g.23907026G>T , CM000675.1:g.23907026G>T	GRCh37
NC_000013.9:g.22805026G>T	NCBI36
NG_012342.1:g.105816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20772C>A	ENSP00000508399.1:n.2186-20772C>A
ENST00000682944.1:c.11016C>A	ENSP00000507173.1:p.Phe3672Leu
ENST00000683210.1:c.2185+20898C>A	ENSP00000506739.1:n.2185+20898C>A
ENST00000683270.1:c.6446-3403C>A	ENSP00000507624.1:n.6446-3403C>A
ENST00000683367.1:c.2177-3403C>A	ENSP00000507780.1:n.2177-3403C>A
ENST00000683489.1:c.2292-2935C>A	ENSP00000508403.1:n.2292-2935C>A
ENST00000683680.1:c.2319-2935C>A	ENSP00000507223.1:n.2319-2935C>A
ENST00000684163.1:c.2204-3403C>A	ENSP00000508262.1:n.2204-3403C>A
ENST00000684196.1:n.4543-3403C>A
ENST00000684325.1:c.2186-11213C>A	ENSP00000508121.1:n.2186-11213C>A
ENST00000684385.1:c.2221-3403C>A	ENSP00000507855.1:n.2221-3403C>A
ENST00000684497.1:c.2186-10243C>A	ENSP00000507057.1:n.2186-10243C>A
ENST00000382292.9:c.10989C>A MANE Select	ENSP00000371729.3:p.Phe3663Leu
ENST00000423156.2:c.2186-3403C>A	ENSP00000390925.2:n.2186-3403C>A
ENST00000455470.6:c.2432-3403C>A	ENSP00000406565.2:n.2432-3403C>A
ENST00000382292.7:c.10989C>A	ENSP00000371729.3:p.Phe3663Leu
ENST00000382298.7:c.10989C>A	ENSP00000371735.3:p.Phe3663Leu
ENST00000402364.1:c.8739C>A	ENSP00000385844.1:p.Phe2913Leu
ENST00000423156.1:c.1058-3403C>A	ENSP00000390925.1:n.1058-3403C>A
ENST00000455470.5:c.2130-3403C>A
NM_001278055.1:c.10548C>A	NP_001264984.1:p.Phe3516Leu
NM_014363.5:c.10989C>A	NP_055178.3:p.Phe3663Leu
XM_005266338.1:c.11016C>A	XP_005266395.1:p.Phe3672Leu
XM_011535038.1:c.11040C>A	XP_011533340.1:p.Phe3680Leu
XM_011535039.1:c.11007C>A	XP_011533341.1:p.Phe3669Leu
XM_005266338.2:c.11016C>A	XP_005266395.1:p.Phe3672Leu
XM_011535039.2:c.11007C>A	XP_011533341.1:p.Phe3669Leu
XM_017020539.1:c.10980C>A	XP_016876028.1:p.Phe3660Leu
XM_024449337.1:c.11016C>A	XP_024305105.1:p.Phe3672Leu
NM_014363.6:c.10989C>A MANE Select	NP_055178.3:p.Phe3663Leu
NM_001278055.2:c.10548C>A	NP_001264984.1:p.Phe3516Leu