Canonical Allele Identifier: CA387505305

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23904598C>T (hg19) ; chr13:g.23330459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330459C>T , CM000675.2:g.23330459C>T	GRCh38
NC_000013.10:g.23904598C>T , CM000675.1:g.23904598C>T	GRCh37
NC_000013.9:g.22802598C>T	NCBI36
NG_012342.1:g.108244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18344G>A	ENSP00000508399.1:n.2186-18344G>A
ENST00000682944.1:c.13444G>A	ENSP00000507173.1:p.Val4482Met
ENST00000683210.1:c.2185+23326G>A	ENSP00000506739.1:n.2185+23326G>A
ENST00000683270.1:c.6446-975G>A	ENSP00000507624.1:n.6446-975G>A
ENST00000683367.1:c.2177-975G>A	ENSP00000507780.1:n.2177-975G>A
ENST00000683489.1:c.2292-507G>A	ENSP00000508403.1:n.2292-507G>A
ENST00000683680.1:c.2319-507G>A	ENSP00000507223.1:n.2319-507G>A
ENST00000684163.1:c.2204-975G>A	ENSP00000508262.1:n.2204-975G>A
ENST00000684196.1:n.4543-975G>A
ENST00000684325.1:c.2186-8785G>A	ENSP00000508121.1:n.2186-8785G>A
ENST00000684385.1:c.2221-975G>A	ENSP00000507855.1:n.2221-975G>A
ENST00000684497.1:c.2186-7815G>A	ENSP00000507057.1:n.2186-7815G>A
ENST00000382292.9:c.13417G>A MANE Select	ENSP00000371729.3:p.Val4473Met
ENST00000423156.2:c.2186-975G>A	ENSP00000390925.2:n.2186-975G>A
ENST00000455470.6:c.2432-975G>A	ENSP00000406565.2:n.2432-975G>A
ENST00000382292.7:c.13417G>A	ENSP00000371729.3:p.Val4473Met
ENST00000382298.7:c.13417G>A	ENSP00000371735.3:p.Val4473Met
ENST00000402364.1:c.11167G>A	ENSP00000385844.1:p.Val3723Met
ENST00000423156.1:c.1058-975G>A	ENSP00000390925.1:n.1058-975G>A
ENST00000455470.5:c.2130-975G>A
NM_001278055.1:c.12976G>A	NP_001264984.1:p.Val4326Met
NM_014363.5:c.13417G>A	NP_055178.3:p.Val4473Met
XM_005266338.1:c.13444G>A	XP_005266395.1:p.Val4482Met
XM_011535038.1:c.13468G>A	XP_011533340.1:p.Val4490Met
XM_011535039.1:c.13435G>A	XP_011533341.1:p.Val4479Met
XM_005266338.2:c.13444G>A	XP_005266395.1:p.Val4482Met
XM_011535039.2:c.13435G>A	XP_011533341.1:p.Val4479Met
XM_017020539.1:c.13408G>A	XP_016876028.1:p.Val4470Met
XM_024449337.1:c.13444G>A	XP_024305105.1:p.Val4482Met
NM_014363.6:c.13417G>A MANE Select	NP_055178.3:p.Val4473Met
NM_001278055.2:c.12976G>A	NP_001264984.1:p.Val4326Met