Canonical Allele Identifier: CA387551933

Gene: SACS

Linked Data

• dbSNP Id: rs1358600922
• gnomAD v2: 13-23932504-T-G
• gnomAD v4: 13-23358365-T-G
• MyVariant Identifiers: chr13:g.23932504T>G (hg19) ; chr13:g.23358365T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358365T>G , CM000675.2:g.23358365T>G	GRCh38
NC_000013.10:g.23932504T>G , CM000675.1:g.23932504T>G	GRCh37
NC_000013.9:g.22830504T>G	NCBI36
NG_012342.1:g.80338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.574A>C	ENSP00000508399.1:p.Ile192Leu
ENST00000682944.1:c.574A>C	ENSP00000507173.1:p.Ile192Leu
ENST00000683154.1:n.712A>C
ENST00000683210.1:c.574A>C	ENSP00000506739.1:p.Ile192Leu
ENST00000683270.1:c.565A>C	ENSP00000507624.1:p.Ile189Leu
ENST00000683367.1:c.565A>C	ENSP00000507780.1:p.Ile189Leu
ENST00000683489.1:c.574A>C	ENSP00000508403.1:p.Ile192Leu
ENST00000683680.1:c.574A>C	ENSP00000507223.1:p.Ile192Leu
ENST00000684163.1:c.565A>C	ENSP00000508262.1:p.Ile189Leu
ENST00000684196.1:n.2931A>C
ENST00000684325.1:c.574A>C	ENSP00000508121.1:p.Ile192Leu
ENST00000684385.1:c.574A>C	ENSP00000507855.1:p.Ile192Leu
ENST00000684497.1:c.574A>C	ENSP00000507057.1:p.Ile192Leu
ENST00000382292.9:c.574A>C MANE Select	ENSP00000371729.3:p.Ile192Leu
ENST00000423156.2:c.574A>C	ENSP00000390925.2:p.Ile192Leu
ENST00000455470.6:c.574A>C	ENSP00000406565.2:p.Ile192Leu
ENST00000382292.7:c.574A>C	ENSP00000371729.3:p.Ile192Leu
ENST00000382298.7:c.574A>C	ENSP00000371735.3:p.Ile192Leu
ENST00000402364.1:c.-1677A>C	ENSP00000385844.1:n.-1677A>C
ENST00000455470.5:c.272A>C
NM_001278055.1:c.133A>C	NP_001264984.1:p.Ile45Leu
NM_014363.5:c.574A>C	NP_055178.3:p.Ile192Leu
XM_005266338.1:c.574A>C	XP_005266395.1:p.Ile192Leu
XM_011535038.1:c.598A>C	XP_011533340.1:p.Ile200Leu
XM_011535039.1:c.565A>C	XP_011533341.1:p.Ile189Leu
XM_005266338.2:c.574A>C	XP_005266395.1:p.Ile192Leu
XM_011535039.2:c.565A>C	XP_011533341.1:p.Ile189Leu
XM_017020539.1:c.565A>C	XP_016876028.1:p.Ile189Leu
XM_024449337.1:c.574A>C	XP_024305105.1:p.Ile192Leu
NM_014363.6:c.574A>C MANE Select	NP_055178.3:p.Ile192Leu
NM_001278055.2:c.133A>C	NP_001264984.1:p.Ile45Leu