Canonical Allele Identifier: CA6910404

Gene: SACS

Linked Data

• dbSNP Id: rs199970621
• ExAC: 13:23907278 C / A
• gnomAD v2: 13-23907278-C-A
• gnomAD v4: 13-23333139-C-A
• MyVariant Identifiers: chr13:g.23907278C>A (hg19) ; chr13:g.23333139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333139C>A , CM000675.2:g.23333139C>A	GRCh38
NC_000013.10:g.23907278C>A , CM000675.1:g.23907278C>A	GRCh37
NC_000013.9:g.22805278C>A	NCBI36
NG_012342.1:g.105564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20646G>T	ENSP00000508399.1:n.2185+20646G>T
ENST00000682944.1:c.10764G>T	ENSP00000507173.1:p.Met3588Ile
ENST00000683210.1:c.2185+20646G>T	ENSP00000506739.1:n.2185+20646G>T
ENST00000683270.1:c.6446-3655G>T	ENSP00000507624.1:n.6446-3655G>T
ENST00000683367.1:c.2177-3655G>T	ENSP00000507780.1:n.2177-3655G>T
ENST00000683489.1:c.2292-3187G>T	ENSP00000508403.1:n.2292-3187G>T
ENST00000683680.1:c.2319-3187G>T	ENSP00000507223.1:n.2319-3187G>T
ENST00000684163.1:c.2204-3655G>T	ENSP00000508262.1:n.2204-3655G>T
ENST00000684196.1:n.4543-3655G>T
ENST00000684325.1:c.2186-11465G>T	ENSP00000508121.1:n.2186-11465G>T
ENST00000684385.1:c.2221-3655G>T	ENSP00000507855.1:n.2221-3655G>T
ENST00000684497.1:c.2186-10495G>T	ENSP00000507057.1:n.2186-10495G>T
ENST00000382292.9:c.10737G>T MANE Select	ENSP00000371729.3:p.Met3579Ile
ENST00000423156.2:c.2186-3655G>T	ENSP00000390925.2:n.2186-3655G>T
ENST00000455470.6:c.2432-3655G>T	ENSP00000406565.2:n.2432-3655G>T
ENST00000382292.7:c.10737G>T	ENSP00000371729.3:p.Met3579Ile
ENST00000382298.7:c.10737G>T	ENSP00000371735.3:p.Met3579Ile
ENST00000402364.1:c.8487G>T	ENSP00000385844.1:p.Met2829Ile
ENST00000423156.1:c.1058-3655G>T	ENSP00000390925.1:n.1058-3655G>T
ENST00000455470.5:c.2130-3655G>T
NM_001278055.1:c.10296G>T	NP_001264984.1:p.Met3432Ile
NM_014363.5:c.10737G>T	NP_055178.3:p.Met3579Ile
XM_005266338.1:c.10764G>T	XP_005266395.1:p.Met3588Ile
XM_011535038.1:c.10788G>T	XP_011533340.1:p.Met3596Ile
XM_011535039.1:c.10755G>T	XP_011533341.1:p.Met3585Ile
XM_005266338.2:c.10764G>T	XP_005266395.1:p.Met3588Ile
XM_011535039.2:c.10755G>T	XP_011533341.1:p.Met3585Ile
XM_017020539.1:c.10728G>T	XP_016876028.1:p.Met3576Ile
XM_024449337.1:c.10764G>T	XP_024305105.1:p.Met3588Ile
NM_014363.6:c.10737G>T MANE Select	NP_055178.3:p.Met3579Ile
NM_001278055.2:c.10296G>T	NP_001264984.1:p.Met3432Ile