Canonical Allele Identifier: CA387513398
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908108G>T (hg19) chr13:g.23333969G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333969G>T , CM000675.2:g.23333969G>T GRCh38
NC_000013.10:g.23908108G>T , CM000675.1:g.23908108G>T GRCh37
NC_000013.9:g.22806108G>T NCBI36
NG_012342.1:g.104734C>A

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9466C>A NP_001264984.1:p.Pro3156Thr
NM_014363.5:c.9907C>A NP_055178.3:p.Pro3303Thr
XM_005266338.1:c.9934C>A XP_005266395.1:p.Pro3312Thr
XM_011535038.1:c.9958C>A XP_011533340.1:p.Pro3320Thr
XM_011535039.1:c.9925C>A XP_011533341.1:p.Pro3309Thr
XM_005266338.2:c.9934C>A XP_005266395.1:p.Pro3312Thr
XM_011535039.2:c.9925C>A XP_011533341.1:p.Pro3309Thr
XM_017020539.1:c.9898C>A XP_016876028.1:p.Pro3300Thr
XM_024449337.1:c.9934C>A XP_024305105.1:p.Pro3312Thr
NM_014363.6:c.9907C>A MANE Select NP_055178.3:p.Pro3303Thr
NM_001278055.2:c.9466C>A NP_001264984.1:p.Pro3156Thr
ENST00000382292.7:c.9907C>A ENSP00000371729.3:p.Pro3303Thr
ENST00000382298.7:c.9907C>A ENSP00000371735.3:p.Pro3303Thr
ENST00000402364.1:c.7657C>A ENSP00000385844.1:p.Pro2553Thr
ENST00000423156.1:n.1058-4485C>A ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4485C>A
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