Canonical Allele Identifier: CA6910025

Gene: SACS

Linked Data

• dbSNP Id: rs764737807
• ExAC: 13:23904925 T / G
• gnomAD v2: 13-23904925-T-G
• MyVariant Identifiers: chr13:g.23904925T>G (hg19) ; chr13:g.23330786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330786T>G , CM000675.2:g.23330786T>G	GRCh38
NC_000013.10:g.23904925T>G , CM000675.1:g.23904925T>G	GRCh37
NC_000013.9:g.22802925T>G	NCBI36
NG_012342.1:g.107917A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18671A>C	ENSP00000508399.1:n.2186-18671A>C
ENST00000682944.1:c.13117A>C	ENSP00000507173.1:p.Lys4373Gln
ENST00000683210.1:c.2185+22999A>C	ENSP00000506739.1:n.2185+22999A>C
ENST00000683270.1:c.6446-1302A>C	ENSP00000507624.1:n.6446-1302A>C
ENST00000683367.1:c.2177-1302A>C	ENSP00000507780.1:n.2177-1302A>C
ENST00000683489.1:c.2292-834A>C	ENSP00000508403.1:n.2292-834A>C
ENST00000683680.1:c.2319-834A>C	ENSP00000507223.1:n.2319-834A>C
ENST00000684163.1:c.2204-1302A>C	ENSP00000508262.1:n.2204-1302A>C
ENST00000684196.1:n.4543-1302A>C
ENST00000684325.1:c.2186-9112A>C	ENSP00000508121.1:n.2186-9112A>C
ENST00000684385.1:c.2221-1302A>C	ENSP00000507855.1:n.2221-1302A>C
ENST00000684497.1:c.2186-8142A>C	ENSP00000507057.1:n.2186-8142A>C
ENST00000382292.9:c.13090A>C MANE Select	ENSP00000371729.3:p.Lys4364Gln
ENST00000423156.2:c.2186-1302A>C	ENSP00000390925.2:n.2186-1302A>C
ENST00000455470.6:c.2432-1302A>C	ENSP00000406565.2:n.2432-1302A>C
ENST00000382292.7:c.13090A>C	ENSP00000371729.3:p.Lys4364Gln
ENST00000382298.7:c.13090A>C	ENSP00000371735.3:p.Lys4364Gln
ENST00000402364.1:c.10840A>C	ENSP00000385844.1:p.Lys3614Gln
ENST00000423156.1:c.1058-1302A>C	ENSP00000390925.1:n.1058-1302A>C
ENST00000455470.5:c.2130-1302A>C
NM_001278055.1:c.12649A>C	NP_001264984.1:p.Lys4217Gln
NM_014363.5:c.13090A>C	NP_055178.3:p.Lys4364Gln
XM_005266338.1:c.13117A>C	XP_005266395.1:p.Lys4373Gln
XM_011535038.1:c.13141A>C	XP_011533340.1:p.Lys4381Gln
XM_011535039.1:c.13108A>C	XP_011533341.1:p.Lys4370Gln
XM_005266338.2:c.13117A>C	XP_005266395.1:p.Lys4373Gln
XM_011535039.2:c.13108A>C	XP_011533341.1:p.Lys4370Gln
XM_017020539.1:c.13081A>C	XP_016876028.1:p.Lys4361Gln
XM_024449337.1:c.13117A>C	XP_024305105.1:p.Lys4373Gln
NM_014363.6:c.13090A>C MANE Select	NP_055178.3:p.Lys4364Gln
NM_001278055.2:c.12649A>C	NP_001264984.1:p.Lys4217Gln