Canonical Allele Identifier: CA387515683

Gene: SACS

Linked Data

• gnomAD v4: 13-23335005-C-A
• COSMIC: COSM946022 ; COSM1586951
• MyVariant Identifiers: chr13:g.23909144C>A (hg19) ; chr13:g.23335005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335005C>A , CM000675.2:g.23335005C>A	GRCh38
NC_000013.10:g.23909144C>A , CM000675.1:g.23909144C>A	GRCh37
NC_000013.9:g.22807144C>A	NCBI36
NG_012342.1:g.103698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18780G>T	ENSP00000508399.1:n.2185+18780G>T
ENST00000682944.1:c.8898G>T	ENSP00000507173.1:p.Lys2966Asn
ENST00000683210.1:c.2185+18780G>T	ENSP00000506739.1:n.2185+18780G>T
ENST00000683270.1:c.6445+2417G>T	ENSP00000507624.1:n.6445+2417G>T
ENST00000683367.1:c.2177-5521G>T	ENSP00000507780.1:n.2177-5521G>T
ENST00000683489.1:c.2292-5053G>T	ENSP00000508403.1:n.2292-5053G>T
ENST00000683680.1:c.2319-5053G>T	ENSP00000507223.1:n.2319-5053G>T
ENST00000684163.1:c.2204-5521G>T	ENSP00000508262.1:n.2204-5521G>T
ENST00000684196.1:n.4543-5521G>T
ENST00000684325.1:c.2186-13331G>T	ENSP00000508121.1:n.2186-13331G>T
ENST00000684385.1:c.2221-5521G>T	ENSP00000507855.1:n.2221-5521G>T
ENST00000684497.1:c.2186-12361G>T	ENSP00000507057.1:n.2186-12361G>T
ENST00000382292.9:c.8871G>T MANE Select	ENSP00000371729.3:p.Lys2957Asn
ENST00000423156.2:c.2186-5521G>T	ENSP00000390925.2:n.2186-5521G>T
ENST00000455470.6:c.2432-5521G>T	ENSP00000406565.2:n.2432-5521G>T
ENST00000382292.7:c.8871G>T	ENSP00000371729.3:p.Lys2957Asn
ENST00000382298.7:c.8871G>T	ENSP00000371735.3:p.Lys2957Asn
ENST00000402364.1:c.6621G>T	ENSP00000385844.1:p.Lys2207Asn
ENST00000423156.1:c.1058-5521G>T	ENSP00000390925.1:n.1058-5521G>T
ENST00000455470.5:c.2130-5521G>T
NM_001278055.1:c.8430G>T	NP_001264984.1:p.Lys2810Asn
NM_014363.5:c.8871G>T	NP_055178.3:p.Lys2957Asn
XM_005266338.1:c.8898G>T	XP_005266395.1:p.Lys2966Asn
XM_011535038.1:c.8922G>T	XP_011533340.1:p.Lys2974Asn
XM_011535039.1:c.8889G>T	XP_011533341.1:p.Lys2963Asn
XM_005266338.2:c.8898G>T	XP_005266395.1:p.Lys2966Asn
XM_011535039.2:c.8889G>T	XP_011533341.1:p.Lys2963Asn
XM_017020539.1:c.8862G>T	XP_016876028.1:p.Lys2954Asn
XM_024449337.1:c.8898G>T	XP_024305105.1:p.Lys2966Asn
NM_014363.6:c.8871G>T MANE Select	NP_055178.3:p.Lys2957Asn
NM_001278055.2:c.8430G>T	NP_001264984.1:p.Lys2810Asn