Canonical Allele Identifier: CA10643113

Gene: SACS

Linked Data

• ClinVar Variation Id: 311520
• ClinVar RCV Id: RCV000401979 ; RCV002520864
• dbSNP Id: rs748595405
• gnomAD v4: 13-23335820-G-A
• MyVariant Identifiers: chr13:g.23909959G>A (hg19) ; chr13:g.23335820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335820G>A , CM000675.2:g.23335820G>A	GRCh38
NC_000013.10:g.23909959G>A , CM000675.1:g.23909959G>A	GRCh37
NC_000013.9:g.22807959G>A	NCBI36
NG_012342.1:g.102883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17965C>T	ENSP00000508399.1:n.2185+17965C>T
ENST00000682944.1:c.8083C>T	ENSP00000507173.1:p.Leu2695=
ENST00000683210.1:c.2185+17965C>T	ENSP00000506739.1:n.2185+17965C>T
ENST00000683270.1:c.6445+1602C>T	ENSP00000507624.1:n.6445+1602C>T
ENST00000683367.1:c.2177-6336C>T	ENSP00000507780.1:n.2177-6336C>T
ENST00000683489.1:c.2291+5765C>T	ENSP00000508403.1:n.2291+5765C>T
ENST00000683680.1:c.2318+5765C>T	ENSP00000507223.1:n.2318+5765C>T
ENST00000684163.1:c.2204-6336C>T	ENSP00000508262.1:n.2204-6336C>T
ENST00000684196.1:n.4543-6336C>T
ENST00000684325.1:c.2186-14146C>T	ENSP00000508121.1:n.2186-14146C>T
ENST00000684385.1:c.2221-6336C>T	ENSP00000507855.1:n.2221-6336C>T
ENST00000684497.1:c.2186-13176C>T	ENSP00000507057.1:n.2186-13176C>T
ENST00000382292.9:c.8056C>T MANE Select	ENSP00000371729.3:p.Leu2686=
ENST00000423156.2:c.2186-6336C>T	ENSP00000390925.2:n.2186-6336C>T
ENST00000455470.6:c.2431+5625C>T	ENSP00000406565.2:n.2431+5625C>T
ENST00000382292.7:c.8056C>T	ENSP00000371729.3:p.Leu2686=
ENST00000382298.7:c.8056C>T	ENSP00000371735.3:p.Leu2686=
ENST00000402364.1:c.5806C>T	ENSP00000385844.1:p.Leu1936=
ENST00000423156.1:c.1058-6336C>T	ENSP00000390925.1:n.1058-6336C>T
ENST00000455470.5:c.2129+5625C>T
NM_001278055.1:c.7615C>T	NP_001264984.1:p.Leu2539=
NM_014363.5:c.8056C>T	NP_055178.3:p.Leu2686=
XM_005266338.1:c.8083C>T	XP_005266395.1:p.Leu2695=
XM_011535038.1:c.8107C>T	XP_011533340.1:p.Leu2703=
XM_011535039.1:c.8074C>T	XP_011533341.1:p.Leu2692=
XM_005266338.2:c.8083C>T	XP_005266395.1:p.Leu2695=
XM_011535039.2:c.8074C>T	XP_011533341.1:p.Leu2692=
XM_017020539.1:c.8047C>T	XP_016876028.1:p.Leu2683=
XM_024449337.1:c.8083C>T	XP_024305105.1:p.Leu2695=
NM_014363.6:c.8056C>T MANE Select	NP_055178.3:p.Leu2686=
NM_001278055.2:c.7615C>T	NP_001264984.1:p.Leu2539=