Canonical Allele Identifier: CA387512134

Gene: SACS

Linked Data

• dbSNP Id: rs2137574583
• MyVariant Identifiers: chr13:g.23907541C>A (hg19) ; chr13:g.23333402C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333402C>A , CM000675.2:g.23333402C>A	GRCh38
NC_000013.10:g.23907541C>A , CM000675.1:g.23907541C>A	GRCh37
NC_000013.9:g.22805541C>A	NCBI36
NG_012342.1:g.105301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20383G>T	ENSP00000508399.1:n.2185+20383G>T
ENST00000682944.1:c.10501G>T	ENSP00000507173.1:p.Ala3501Ser
ENST00000683210.1:c.2185+20383G>T	ENSP00000506739.1:n.2185+20383G>T
ENST00000683270.1:c.6446-3918G>T	ENSP00000507624.1:n.6446-3918G>T
ENST00000683367.1:c.2177-3918G>T	ENSP00000507780.1:n.2177-3918G>T
ENST00000683489.1:c.2292-3450G>T	ENSP00000508403.1:n.2292-3450G>T
ENST00000683680.1:c.2319-3450G>T	ENSP00000507223.1:n.2319-3450G>T
ENST00000684163.1:c.2204-3918G>T	ENSP00000508262.1:n.2204-3918G>T
ENST00000684196.1:n.4543-3918G>T
ENST00000684325.1:c.2186-11728G>T	ENSP00000508121.1:n.2186-11728G>T
ENST00000684385.1:c.2221-3918G>T	ENSP00000507855.1:n.2221-3918G>T
ENST00000684497.1:c.2186-10758G>T	ENSP00000507057.1:n.2186-10758G>T
ENST00000382292.9:c.10474G>T MANE Select	ENSP00000371729.3:p.Ala3492Ser
ENST00000423156.2:c.2186-3918G>T	ENSP00000390925.2:n.2186-3918G>T
ENST00000455470.6:c.2432-3918G>T	ENSP00000406565.2:n.2432-3918G>T
ENST00000382292.7:c.10474G>T	ENSP00000371729.3:p.Ala3492Ser
ENST00000382298.7:c.10474G>T	ENSP00000371735.3:p.Ala3492Ser
ENST00000402364.1:c.8224G>T	ENSP00000385844.1:p.Ala2742Ser
ENST00000423156.1:c.1058-3918G>T	ENSP00000390925.1:n.1058-3918G>T
ENST00000455470.5:c.2130-3918G>T
NM_001278055.1:c.10033G>T	NP_001264984.1:p.Ala3345Ser
NM_014363.5:c.10474G>T	NP_055178.3:p.Ala3492Ser
XM_005266338.1:c.10501G>T	XP_005266395.1:p.Ala3501Ser
XM_011535038.1:c.10525G>T	XP_011533340.1:p.Ala3509Ser
XM_011535039.1:c.10492G>T	XP_011533341.1:p.Ala3498Ser
XM_005266338.2:c.10501G>T	XP_005266395.1:p.Ala3501Ser
XM_011535039.2:c.10492G>T	XP_011533341.1:p.Ala3498Ser
XM_017020539.1:c.10465G>T	XP_016876028.1:p.Ala3489Ser
XM_024449337.1:c.10501G>T	XP_024305105.1:p.Ala3501Ser
NM_014363.6:c.10474G>T MANE Select	NP_055178.3:p.Ala3492Ser
NM_001278055.2:c.10033G>T	NP_001264984.1:p.Ala3345Ser