Canonical Allele Identifier: CA387518426

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910309T>G (hg19) ; chr13:g.23336170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336170T>G , CM000675.2:g.23336170T>G	GRCh38
NC_000013.10:g.23910309T>G , CM000675.1:g.23910309T>G	GRCh37
NC_000013.9:g.22808309T>G	NCBI36
NG_012342.1:g.102533A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17615A>C	ENSP00000508399.1:n.2185+17615A>C
ENST00000682944.1:c.7733A>C	ENSP00000507173.1:p.Gln2578Pro
ENST00000683210.1:c.2185+17615A>C	ENSP00000506739.1:n.2185+17615A>C
ENST00000683270.1:c.6445+1252A>C	ENSP00000507624.1:n.6445+1252A>C
ENST00000683367.1:c.2177-6686A>C	ENSP00000507780.1:n.2177-6686A>C
ENST00000683489.1:c.2291+5415A>C	ENSP00000508403.1:n.2291+5415A>C
ENST00000683680.1:c.2318+5415A>C	ENSP00000507223.1:n.2318+5415A>C
ENST00000684163.1:c.2204-6686A>C	ENSP00000508262.1:n.2204-6686A>C
ENST00000684196.1:n.4543-6686A>C
ENST00000684325.1:c.2186-14496A>C	ENSP00000508121.1:n.2186-14496A>C
ENST00000684385.1:c.2221-6686A>C	ENSP00000507855.1:n.2221-6686A>C
ENST00000684497.1:c.2186-13526A>C	ENSP00000507057.1:n.2186-13526A>C
ENST00000382292.9:c.7706A>C MANE Select	ENSP00000371729.3:p.Gln2569Pro
ENST00000423156.2:c.2186-6686A>C	ENSP00000390925.2:n.2186-6686A>C
ENST00000455470.6:c.2431+5275A>C	ENSP00000406565.2:n.2431+5275A>C
ENST00000382292.7:c.7706A>C	ENSP00000371729.3:p.Gln2569Pro
ENST00000382298.7:c.7706A>C	ENSP00000371735.3:p.Gln2569Pro
ENST00000402364.1:c.5456A>C	ENSP00000385844.1:p.Gln1819Pro
ENST00000423156.1:c.1058-6686A>C	ENSP00000390925.1:n.1058-6686A>C
ENST00000455470.5:c.2129+5275A>C
NM_001278055.1:c.7265A>C	NP_001264984.1:p.Gln2422Pro
NM_014363.5:c.7706A>C	NP_055178.3:p.Gln2569Pro
XM_005266338.1:c.7733A>C	XP_005266395.1:p.Gln2578Pro
XM_011535038.1:c.7757A>C	XP_011533340.1:p.Gln2586Pro
XM_011535039.1:c.7724A>C	XP_011533341.1:p.Gln2575Pro
XM_005266338.2:c.7733A>C	XP_005266395.1:p.Gln2578Pro
XM_011535039.2:c.7724A>C	XP_011533341.1:p.Gln2575Pro
XM_017020539.1:c.7697A>C	XP_016876028.1:p.Gln2566Pro
XM_024449337.1:c.7733A>C	XP_024305105.1:p.Gln2578Pro
NM_014363.6:c.7706A>C MANE Select	NP_055178.3:p.Gln2569Pro
NM_001278055.2:c.7265A>C	NP_001264984.1:p.Gln2422Pro