Canonical Allele Identifier: CA387513394
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23908107G>A (hg19) chr13:g.23333968G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333968G>A , CM000675.2:g.23333968G>A GRCh38
NC_000013.10:g.23908107G>A , CM000675.1:g.23908107G>A GRCh37
NC_000013.9:g.22806107G>A NCBI36
NG_012342.1:g.104735C>T

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9467C>T NP_001264984.1:p.Pro3156Leu
NM_014363.5:c.9908C>T NP_055178.3:p.Pro3303Leu
XM_005266338.1:c.9935C>T XP_005266395.1:p.Pro3312Leu
XM_011535038.1:c.9959C>T XP_011533340.1:p.Pro3320Leu
XM_011535039.1:c.9926C>T XP_011533341.1:p.Pro3309Leu
XM_005266338.2:c.9935C>T XP_005266395.1:p.Pro3312Leu
XM_011535039.2:c.9926C>T XP_011533341.1:p.Pro3309Leu
XM_017020539.1:c.9899C>T XP_016876028.1:p.Pro3300Leu
XM_024449337.1:c.9935C>T XP_024305105.1:p.Pro3312Leu
NM_014363.6:c.9908C>T MANE Select NP_055178.3:p.Pro3303Leu
NM_001278055.2:c.9467C>T NP_001264984.1:p.Pro3156Leu
ENST00000382292.7:c.9908C>T ENSP00000371729.3:p.Pro3303Leu
ENST00000382298.7:c.9908C>T ENSP00000371735.3:p.Pro3303Leu
ENST00000402364.1:c.7658C>T ENSP00000385844.1:p.Pro2553Leu
ENST00000423156.1:n.1058-4484C>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4484C>T
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