Canonical Allele Identifier: CA6911114

Gene: SACS

Linked Data

• dbSNP Id: rs759769166
• ExAC: 13:23911777 C / A
• gnomAD v2: 13-23911777-C-A
• gnomAD v4: 13-23337638-C-A
• MyVariant Identifiers: chr13:g.23911777C>A (hg19) ; chr13:g.23337638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337638C>A , CM000675.2:g.23337638C>A	GRCh38
NC_000013.10:g.23911777C>A , CM000675.1:g.23911777C>A	GRCh37
NC_000013.9:g.22809777C>A	NCBI36
NG_012342.1:g.101065G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16147G>T	ENSP00000508399.1:n.2185+16147G>T
ENST00000682944.1:c.6265G>T	ENSP00000507173.1:p.Val2089Phe
ENST00000683210.1:c.2185+16147G>T	ENSP00000506739.1:n.2185+16147G>T
ENST00000683270.1:c.6229G>T	ENSP00000507624.1:p.Val2077Phe
ENST00000683367.1:c.2177-8154G>T	ENSP00000507780.1:n.2177-8154G>T
ENST00000683489.1:c.2291+3947G>T	ENSP00000508403.1:n.2291+3947G>T
ENST00000683680.1:c.2318+3947G>T	ENSP00000507223.1:n.2318+3947G>T
ENST00000684163.1:c.2204-8154G>T	ENSP00000508262.1:n.2204-8154G>T
ENST00000684196.1:n.4543-8154G>T
ENST00000684325.1:c.2186-15964G>T	ENSP00000508121.1:n.2186-15964G>T
ENST00000684385.1:c.2221-8154G>T	ENSP00000507855.1:n.2221-8154G>T
ENST00000684497.1:c.2186-14994G>T	ENSP00000507057.1:n.2186-14994G>T
ENST00000382292.9:c.6238G>T MANE Select	ENSP00000371729.3:p.Val2080Phe
ENST00000423156.2:c.2186-8154G>T	ENSP00000390925.2:n.2186-8154G>T
ENST00000455470.6:c.2431+3807G>T	ENSP00000406565.2:n.2431+3807G>T
ENST00000382292.7:c.6238G>T	ENSP00000371729.3:p.Val2080Phe
ENST00000382298.7:c.6238G>T	ENSP00000371735.3:p.Val2080Phe
ENST00000402364.1:c.3988G>T	ENSP00000385844.1:p.Val1330Phe
ENST00000423156.1:c.1058-8154G>T	ENSP00000390925.1:n.1058-8154G>T
ENST00000455470.5:c.2129+3807G>T
NM_001278055.1:c.5797G>T	NP_001264984.1:p.Val1933Phe
NM_014363.5:c.6238G>T	NP_055178.3:p.Val2080Phe
XM_005266338.1:c.6265G>T	XP_005266395.1:p.Val2089Phe
XM_011535038.1:c.6289G>T	XP_011533340.1:p.Val2097Phe
XM_011535039.1:c.6256G>T	XP_011533341.1:p.Val2086Phe
XM_005266338.2:c.6265G>T	XP_005266395.1:p.Val2089Phe
XM_011535039.2:c.6256G>T	XP_011533341.1:p.Val2086Phe
XM_017020539.1:c.6229G>T	XP_016876028.1:p.Val2077Phe
XM_024449337.1:c.6265G>T	XP_024305105.1:p.Val2089Phe
NM_014363.6:c.6238G>T MANE Select	NP_055178.3:p.Val2080Phe
NM_001278055.2:c.5797G>T	NP_001264984.1:p.Val1933Phe