Canonical Allele Identifier: CA387507339

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905395A>C (hg19) ; chr13:g.23331256A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331256A>C , CM000675.2:g.23331256A>C	GRCh38
NC_000013.10:g.23905395A>C , CM000675.1:g.23905395A>C	GRCh37
NC_000013.9:g.22803395A>C	NCBI36
NG_012342.1:g.107447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19141T>G	ENSP00000508399.1:n.2186-19141T>G
ENST00000682944.1:c.12647T>G	ENSP00000507173.1:p.Val4216Gly
ENST00000683210.1:c.2185+22529T>G	ENSP00000506739.1:n.2185+22529T>G
ENST00000683270.1:c.6446-1772T>G	ENSP00000507624.1:n.6446-1772T>G
ENST00000683367.1:c.2177-1772T>G	ENSP00000507780.1:n.2177-1772T>G
ENST00000683489.1:c.2292-1304T>G	ENSP00000508403.1:n.2292-1304T>G
ENST00000683680.1:c.2319-1304T>G	ENSP00000507223.1:n.2319-1304T>G
ENST00000684163.1:c.2204-1772T>G	ENSP00000508262.1:n.2204-1772T>G
ENST00000684196.1:n.4543-1772T>G
ENST00000684325.1:c.2186-9582T>G	ENSP00000508121.1:n.2186-9582T>G
ENST00000684385.1:c.2221-1772T>G	ENSP00000507855.1:n.2221-1772T>G
ENST00000684497.1:c.2186-8612T>G	ENSP00000507057.1:n.2186-8612T>G
ENST00000382292.9:c.12620T>G MANE Select	ENSP00000371729.3:p.Val4207Gly
ENST00000423156.2:c.2186-1772T>G	ENSP00000390925.2:n.2186-1772T>G
ENST00000455470.6:c.2432-1772T>G	ENSP00000406565.2:n.2432-1772T>G
ENST00000382292.7:c.12620T>G	ENSP00000371729.3:p.Val4207Gly
ENST00000382298.7:c.12620T>G	ENSP00000371735.3:p.Val4207Gly
ENST00000402364.1:c.10370T>G	ENSP00000385844.1:p.Val3457Gly
ENST00000423156.1:c.1058-1772T>G	ENSP00000390925.1:n.1058-1772T>G
ENST00000455470.5:c.2130-1772T>G
NM_001278055.1:c.12179T>G	NP_001264984.1:p.Val4060Gly
NM_014363.5:c.12620T>G	NP_055178.3:p.Val4207Gly
XM_005266338.1:c.12647T>G	XP_005266395.1:p.Val4216Gly
XM_011535038.1:c.12671T>G	XP_011533340.1:p.Val4224Gly
XM_011535039.1:c.12638T>G	XP_011533341.1:p.Val4213Gly
XM_005266338.2:c.12647T>G	XP_005266395.1:p.Val4216Gly
XM_011535039.2:c.12638T>G	XP_011533341.1:p.Val4213Gly
XM_017020539.1:c.12611T>G	XP_016876028.1:p.Val4204Gly
XM_024449337.1:c.12647T>G	XP_024305105.1:p.Val4216Gly
NM_014363.6:c.12620T>G MANE Select	NP_055178.3:p.Val4207Gly
NM_001278055.2:c.12179T>G	NP_001264984.1:p.Val4060Gly