Canonical Allele Identifier: CA387511026

Gene: SACS

Linked Data

• dbSNP Id: rs886050076
• gnomAD v2: 13-23907048-G-A
• gnomAD v4: 13-23332909-G-A
• MyVariant Identifiers: chr13:g.23907048G>A (hg19) ; chr13:g.23332909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332909G>A , CM000675.2:g.23332909G>A	GRCh38
NC_000013.10:g.23907048G>A , CM000675.1:g.23907048G>A	GRCh37
NC_000013.9:g.22805048G>A	NCBI36
NG_012342.1:g.105794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20794C>T	ENSP00000508399.1:n.2186-20794C>T
ENST00000682944.1:c.10994C>T	ENSP00000507173.1:p.Pro3665Leu
ENST00000683210.1:c.2185+20876C>T	ENSP00000506739.1:n.2185+20876C>T
ENST00000683270.1:c.6446-3425C>T	ENSP00000507624.1:n.6446-3425C>T
ENST00000683367.1:c.2177-3425C>T	ENSP00000507780.1:n.2177-3425C>T
ENST00000683489.1:c.2292-2957C>T	ENSP00000508403.1:n.2292-2957C>T
ENST00000683680.1:c.2319-2957C>T	ENSP00000507223.1:n.2319-2957C>T
ENST00000684163.1:c.2204-3425C>T	ENSP00000508262.1:n.2204-3425C>T
ENST00000684196.1:n.4543-3425C>T
ENST00000684325.1:c.2186-11235C>T	ENSP00000508121.1:n.2186-11235C>T
ENST00000684385.1:c.2221-3425C>T	ENSP00000507855.1:n.2221-3425C>T
ENST00000684497.1:c.2186-10265C>T	ENSP00000507057.1:n.2186-10265C>T
ENST00000382292.9:c.10967C>T MANE Select	ENSP00000371729.3:p.Pro3656Leu
ENST00000423156.2:c.2186-3425C>T	ENSP00000390925.2:n.2186-3425C>T
ENST00000455470.6:c.2432-3425C>T	ENSP00000406565.2:n.2432-3425C>T
ENST00000382292.7:c.10967C>T	ENSP00000371729.3:p.Pro3656Leu
ENST00000382298.7:c.10967C>T	ENSP00000371735.3:p.Pro3656Leu
ENST00000402364.1:c.8717C>T	ENSP00000385844.1:p.Pro2906Leu
ENST00000423156.1:c.1058-3425C>T	ENSP00000390925.1:n.1058-3425C>T
ENST00000455470.5:c.2130-3425C>T
NM_001278055.1:c.10526C>T	NP_001264984.1:p.Pro3509Leu
NM_014363.5:c.10967C>T	NP_055178.3:p.Pro3656Leu
XM_005266338.1:c.10994C>T	XP_005266395.1:p.Pro3665Leu
XM_011535038.1:c.11018C>T	XP_011533340.1:p.Pro3673Leu
XM_011535039.1:c.10985C>T	XP_011533341.1:p.Pro3662Leu
XM_005266338.2:c.10994C>T	XP_005266395.1:p.Pro3665Leu
XM_011535039.2:c.10985C>T	XP_011533341.1:p.Pro3662Leu
XM_017020539.1:c.10958C>T	XP_016876028.1:p.Pro3653Leu
XM_024449337.1:c.10994C>T	XP_024305105.1:p.Pro3665Leu
NM_014363.6:c.10967C>T MANE Select	NP_055178.3:p.Pro3656Leu
NM_001278055.2:c.10526C>T	NP_001264984.1:p.Pro3509Leu