Canonical Allele Identifier: CA483159519
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908202A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334063A>C , CM000675.2:g.23334063A>C GRCh38
NC_000013.10:g.23908202A>C , CM000675.1:g.23908202A>C GRCh37
NC_000013.9:g.22806202A>C NCBI36
NG_012342.1:g.104640T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19722T>G ENSP00000508399.1:n.2185+19722T>G
ENST00000682944.1:c.9840T>G ENSP00000507173.1:p.Val3280=
ENST00000683210.1:c.2185+19722T>G ENSP00000506739.1:n.2185+19722T>G
ENST00000683270.1:c.6445+3359T>G ENSP00000507624.1:n.6445+3359T>G
ENST00000683367.1:c.2177-4579T>G ENSP00000507780.1:n.2177-4579T>G
ENST00000683489.1:c.2292-4111T>G ENSP00000508403.1:n.2292-4111T>G
ENST00000683680.1:c.2319-4111T>G ENSP00000507223.1:n.2319-4111T>G
ENST00000684163.1:c.2204-4579T>G ENSP00000508262.1:n.2204-4579T>G
ENST00000684196.1:n.4543-4579T>G
ENST00000684325.1:c.2186-12389T>G ENSP00000508121.1:n.2186-12389T>G
ENST00000684385.1:c.2221-4579T>G ENSP00000507855.1:n.2221-4579T>G
ENST00000684497.1:c.2186-11419T>G ENSP00000507057.1:n.2186-11419T>G
ENST00000382292.9:c.9813T>G MANE Select ENSP00000371729.3:p.Val3271=
ENST00000423156.2:c.2186-4579T>G ENSP00000390925.2:n.2186-4579T>G
ENST00000455470.6:c.2432-4579T>G ENSP00000406565.2:n.2432-4579T>G
ENST00000382292.7:c.9813T>G ENSP00000371729.3:p.Val3271=
ENST00000382298.7:c.9813T>G ENSP00000371735.3:p.Val3271=
ENST00000402364.1:c.7563T>G ENSP00000385844.1:p.Val2521=
ENST00000423156.1:c.1058-4579T>G ENSP00000390925.1:n.1058-4579T>G
ENST00000455470.5:c.2130-4579T>G
NM_001278055.1:c.9372T>G NP_001264984.1:p.Val3124=
NM_014363.5:c.9813T>G NP_055178.3:p.Val3271=
XM_005266338.1:c.9840T>G XP_005266395.1:p.Val3280=
XM_011535038.1:c.9864T>G XP_011533340.1:p.Val3288=
XM_011535039.1:c.9831T>G XP_011533341.1:p.Val3277=
XM_005266338.2:c.9840T>G XP_005266395.1:p.Val3280=
XM_011535039.2:c.9831T>G XP_011533341.1:p.Val3277=
XM_017020539.1:c.9804T>G XP_016876028.1:p.Val3268=
XM_024449337.1:c.9840T>G XP_024305105.1:p.Val3280=
NM_014363.6:c.9813T>G MANE Select NP_055178.3:p.Val3271=
NM_001278055.2:c.9372T>G NP_001264984.1:p.Val3124=