Canonical Allele Identifier: CA387504668

Gene: SACS

Linked Data

• gnomAD v4: 13-23330175-G-C
• MyVariant Identifiers: chr13:g.23904314G>C (hg19) ; chr13:g.23330175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330175G>C , CM000675.2:g.23330175G>C	GRCh38
NC_000013.10:g.23904314G>C , CM000675.1:g.23904314G>C	GRCh37
NC_000013.9:g.22802314G>C	NCBI36
NG_012342.1:g.108528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18060C>G	ENSP00000508399.1:n.2186-18060C>G
ENST00000682944.1:c.13728C>G	ENSP00000507173.1:p.Ile4576Met
ENST00000683210.1:c.2185+23610C>G	ENSP00000506739.1:n.2185+23610C>G
ENST00000683270.1:c.6446-691C>G	ENSP00000507624.1:n.6446-691C>G
ENST00000683367.1:c.2177-691C>G	ENSP00000507780.1:n.2177-691C>G
ENST00000683489.1:c.2292-223C>G	ENSP00000508403.1:n.2292-223C>G
ENST00000683680.1:c.2319-223C>G	ENSP00000507223.1:n.2319-223C>G
ENST00000684163.1:c.2204-691C>G	ENSP00000508262.1:n.2204-691C>G
ENST00000684196.1:n.4543-691C>G
ENST00000684325.1:c.2186-8501C>G	ENSP00000508121.1:n.2186-8501C>G
ENST00000684385.1:c.2221-691C>G	ENSP00000507855.1:n.2221-691C>G
ENST00000684497.1:c.2186-7531C>G	ENSP00000507057.1:n.2186-7531C>G
ENST00000382292.9:c.13701C>G MANE Select	ENSP00000371729.3:p.Ile4567Met
ENST00000423156.2:c.2186-691C>G	ENSP00000390925.2:n.2186-691C>G
ENST00000455470.6:c.2432-691C>G	ENSP00000406565.2:n.2432-691C>G
ENST00000382292.7:c.13701C>G	ENSP00000371729.3:p.Ile4567Met
ENST00000382298.7:c.13701C>G	ENSP00000371735.3:p.Ile4567Met
ENST00000402364.1:c.11451C>G	ENSP00000385844.1:p.Ile3817Met
ENST00000423156.1:c.1058-691C>G	ENSP00000390925.1:n.1058-691C>G
ENST00000455470.5:c.2130-691C>G
NM_001278055.1:c.13260C>G	NP_001264984.1:p.Ile4420Met
NM_014363.5:c.13701C>G	NP_055178.3:p.Ile4567Met
XM_005266338.1:c.13728C>G	XP_005266395.1:p.Ile4576Met
XM_011535038.1:c.13752C>G	XP_011533340.1:p.Ile4584Met
XM_011535039.1:c.13719C>G	XP_011533341.1:p.Ile4573Met
XM_005266338.2:c.13728C>G	XP_005266395.1:p.Ile4576Met
XM_011535039.2:c.13719C>G	XP_011533341.1:p.Ile4573Met
XM_017020539.1:c.13692C>G	XP_016876028.1:p.Ile4564Met
XM_024449337.1:c.13728C>G	XP_024305105.1:p.Ile4576Met
NM_014363.6:c.13701C>G MANE Select	NP_055178.3:p.Ile4567Met
NM_001278055.2:c.13260C>G	NP_001264984.1:p.Ile4420Met