Canonical Allele Identifier: CA387513372

Gene: SACS

Linked Data

• gnomAD v4: 13-23333956-A-G
• MyVariant Identifiers: chr13:g.23908095A>G (hg19) ; chr13:g.23333956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333956A>G , CM000675.2:g.23333956A>G	GRCh38
NC_000013.10:g.23908095A>G , CM000675.1:g.23908095A>G	GRCh37
NC_000013.9:g.22806095A>G	NCBI36
NG_012342.1:g.104747T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19829T>C	ENSP00000508399.1:n.2185+19829T>C
ENST00000682944.1:c.9947T>C	ENSP00000507173.1:p.Met3316Thr
ENST00000683210.1:c.2185+19829T>C	ENSP00000506739.1:n.2185+19829T>C
ENST00000683270.1:c.6445+3466T>C	ENSP00000507624.1:n.6445+3466T>C
ENST00000683367.1:c.2177-4472T>C	ENSP00000507780.1:n.2177-4472T>C
ENST00000683489.1:c.2292-4004T>C	ENSP00000508403.1:n.2292-4004T>C
ENST00000683680.1:c.2319-4004T>C	ENSP00000507223.1:n.2319-4004T>C
ENST00000684163.1:c.2204-4472T>C	ENSP00000508262.1:n.2204-4472T>C
ENST00000684196.1:n.4543-4472T>C
ENST00000684325.1:c.2186-12282T>C	ENSP00000508121.1:n.2186-12282T>C
ENST00000684385.1:c.2221-4472T>C	ENSP00000507855.1:n.2221-4472T>C
ENST00000684497.1:c.2186-11312T>C	ENSP00000507057.1:n.2186-11312T>C
ENST00000382292.9:c.9920T>C MANE Select	ENSP00000371729.3:p.Met3307Thr
ENST00000423156.2:c.2186-4472T>C	ENSP00000390925.2:n.2186-4472T>C
ENST00000455470.6:c.2432-4472T>C	ENSP00000406565.2:n.2432-4472T>C
ENST00000382292.7:c.9920T>C	ENSP00000371729.3:p.Met3307Thr
ENST00000382298.7:c.9920T>C	ENSP00000371735.3:p.Met3307Thr
ENST00000402364.1:c.7670T>C	ENSP00000385844.1:p.Met2557Thr
ENST00000423156.1:c.1058-4472T>C	ENSP00000390925.1:n.1058-4472T>C
ENST00000455470.5:c.2130-4472T>C
NM_001278055.1:c.9479T>C	NP_001264984.1:p.Met3160Thr
NM_014363.5:c.9920T>C	NP_055178.3:p.Met3307Thr
XM_005266338.1:c.9947T>C	XP_005266395.1:p.Met3316Thr
XM_011535038.1:c.9971T>C	XP_011533340.1:p.Met3324Thr
XM_011535039.1:c.9938T>C	XP_011533341.1:p.Met3313Thr
XM_005266338.2:c.9947T>C	XP_005266395.1:p.Met3316Thr
XM_011535039.2:c.9938T>C	XP_011533341.1:p.Met3313Thr
XM_017020539.1:c.9911T>C	XP_016876028.1:p.Met3304Thr
XM_024449337.1:c.9947T>C	XP_024305105.1:p.Met3316Thr
NM_014363.6:c.9920T>C MANE Select	NP_055178.3:p.Met3307Thr
NM_001278055.2:c.9479T>C	NP_001264984.1:p.Met3160Thr