Canonical Allele Identifier: CA387504618

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904293A>C (hg19) ; chr13:g.23330154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330154A>C , CM000675.2:g.23330154A>C	GRCh38
NC_000013.10:g.23904293A>C , CM000675.1:g.23904293A>C	GRCh37
NC_000013.9:g.22802293A>C	NCBI36
NG_012342.1:g.108549T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18039T>G	ENSP00000508399.1:n.2186-18039T>G
ENST00000682944.1:c.13749T>G	ENSP00000507173.1:p.Phe4583Leu
ENST00000683210.1:c.2185+23631T>G	ENSP00000506739.1:n.2185+23631T>G
ENST00000683270.1:c.6446-670T>G	ENSP00000507624.1:n.6446-670T>G
ENST00000683367.1:c.2177-670T>G	ENSP00000507780.1:n.2177-670T>G
ENST00000683489.1:c.2292-202T>G	ENSP00000508403.1:n.2292-202T>G
ENST00000683680.1:c.2319-202T>G	ENSP00000507223.1:n.2319-202T>G
ENST00000684163.1:c.2204-670T>G	ENSP00000508262.1:n.2204-670T>G
ENST00000684196.1:n.4543-670T>G
ENST00000684325.1:c.2186-8480T>G	ENSP00000508121.1:n.2186-8480T>G
ENST00000684385.1:c.2221-670T>G	ENSP00000507855.1:n.2221-670T>G
ENST00000684497.1:c.2186-7510T>G	ENSP00000507057.1:n.2186-7510T>G
ENST00000382292.9:c.13722T>G MANE Select	ENSP00000371729.3:p.Phe4574Leu
ENST00000423156.2:c.2186-670T>G	ENSP00000390925.2:n.2186-670T>G
ENST00000455470.6:c.2432-670T>G	ENSP00000406565.2:n.2432-670T>G
ENST00000382292.7:c.13722T>G	ENSP00000371729.3:p.Phe4574Leu
ENST00000382298.7:c.13722T>G	ENSP00000371735.3:p.Phe4574Leu
ENST00000402364.1:c.11472T>G	ENSP00000385844.1:p.Phe3824Leu
ENST00000423156.1:c.1058-670T>G	ENSP00000390925.1:n.1058-670T>G
ENST00000455470.5:c.2130-670T>G
NM_001278055.1:c.13281T>G	NP_001264984.1:p.Phe4427Leu
NM_014363.5:c.13722T>G	NP_055178.3:p.Phe4574Leu
XM_005266338.1:c.13749T>G	XP_005266395.1:p.Phe4583Leu
XM_011535038.1:c.13773T>G	XP_011533340.1:p.Phe4591Leu
XM_011535039.1:c.13740T>G	XP_011533341.1:p.Phe4580Leu
XM_005266338.2:c.13749T>G	XP_005266395.1:p.Phe4583Leu
XM_011535039.2:c.13740T>G	XP_011533341.1:p.Phe4580Leu
XM_017020539.1:c.13713T>G	XP_016876028.1:p.Phe4571Leu
XM_024449337.1:c.13749T>G	XP_024305105.1:p.Phe4583Leu
NM_014363.6:c.13722T>G MANE Select	NP_055178.3:p.Phe4574Leu
NM_001278055.2:c.13281T>G	NP_001264984.1:p.Phe4427Leu