Canonical Allele Identifier: CA387513379
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908099G>A (hg19) chr13:g.23333960G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333960G>A , CM000675.2:g.23333960G>A GRCh38
NC_000013.10:g.23908099G>A , CM000675.1:g.23908099G>A GRCh37
NC_000013.9:g.22806099G>A NCBI36
NG_012342.1:g.104743C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19825C>T ENSP00000508399.1:n.2185+19825C>T
ENST00000682944.1:c.9943C>T ENSP00000507173.1:p.Leu3315Phe
ENST00000683210.1:c.2185+19825C>T ENSP00000506739.1:n.2185+19825C>T
ENST00000683270.1:c.6445+3462C>T ENSP00000507624.1:n.6445+3462C>T
ENST00000683367.1:c.2177-4476C>T ENSP00000507780.1:n.2177-4476C>T
ENST00000683489.1:c.2292-4008C>T ENSP00000508403.1:n.2292-4008C>T
ENST00000683680.1:c.2319-4008C>T ENSP00000507223.1:n.2319-4008C>T
ENST00000684163.1:c.2204-4476C>T ENSP00000508262.1:n.2204-4476C>T
ENST00000684196.1:n.4543-4476C>T
ENST00000684325.1:c.2186-12286C>T ENSP00000508121.1:n.2186-12286C>T
ENST00000684385.1:c.2221-4476C>T ENSP00000507855.1:n.2221-4476C>T
ENST00000684497.1:c.2186-11316C>T ENSP00000507057.1:n.2186-11316C>T
ENST00000382292.9:c.9916C>T MANE Select ENSP00000371729.3:p.Leu3306Phe
ENST00000423156.2:c.2186-4476C>T ENSP00000390925.2:n.2186-4476C>T
ENST00000455470.6:c.2432-4476C>T ENSP00000406565.2:n.2432-4476C>T
ENST00000382292.7:c.9916C>T ENSP00000371729.3:p.Leu3306Phe
ENST00000382298.7:c.9916C>T ENSP00000371735.3:p.Leu3306Phe
ENST00000402364.1:c.7666C>T ENSP00000385844.1:p.Leu2556Phe
ENST00000423156.1:c.1058-4476C>T ENSP00000390925.1:n.1058-4476C>T
ENST00000455470.5:c.2130-4476C>T
NM_001278055.1:c.9475C>T NP_001264984.1:p.Leu3159Phe
NM_014363.5:c.9916C>T NP_055178.3:p.Leu3306Phe
XM_005266338.1:c.9943C>T XP_005266395.1:p.Leu3315Phe
XM_011535038.1:c.9967C>T XP_011533340.1:p.Leu3323Phe
XM_011535039.1:c.9934C>T XP_011533341.1:p.Leu3312Phe
XM_005266338.2:c.9943C>T XP_005266395.1:p.Leu3315Phe
XM_011535039.2:c.9934C>T XP_011533341.1:p.Leu3312Phe
XM_017020539.1:c.9907C>T XP_016876028.1:p.Leu3303Phe
XM_024449337.1:c.9943C>T XP_024305105.1:p.Leu3315Phe
NM_014363.6:c.9916C>T MANE Select NP_055178.3:p.Leu3306Phe
NM_001278055.2:c.9475C>T NP_001264984.1:p.Leu3159Phe
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