Canonical Allele Identifier: CA387515535

Gene: SACS

Linked Data

• gnomAD v4: 13-23334935-G-A
• MyVariant Identifiers: chr13:g.23909074G>A (hg19) ; chr13:g.23334935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334935G>A , CM000675.2:g.23334935G>A	GRCh38
NC_000013.10:g.23909074G>A , CM000675.1:g.23909074G>A	GRCh37
NC_000013.9:g.22807074G>A	NCBI36
NG_012342.1:g.103768C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+18850C>T	ENSP00000508399.1:n.2185+18850C>T
ENST00000682944.1:c.8968C>T	ENSP00000507173.1:p.Leu2990Phe
ENST00000683210.1:c.2185+18850C>T	ENSP00000506739.1:n.2185+18850C>T
ENST00000683270.1:c.6445+2487C>T	ENSP00000507624.1:n.6445+2487C>T
ENST00000683367.1:c.2177-5451C>T	ENSP00000507780.1:n.2177-5451C>T
ENST00000683489.1:c.2292-4983C>T	ENSP00000508403.1:n.2292-4983C>T
ENST00000683680.1:c.2319-4983C>T	ENSP00000507223.1:n.2319-4983C>T
ENST00000684163.1:c.2204-5451C>T	ENSP00000508262.1:n.2204-5451C>T
ENST00000684196.1:n.4543-5451C>T
ENST00000684325.1:c.2186-13261C>T	ENSP00000508121.1:n.2186-13261C>T
ENST00000684385.1:c.2221-5451C>T	ENSP00000507855.1:n.2221-5451C>T
ENST00000684497.1:c.2186-12291C>T	ENSP00000507057.1:n.2186-12291C>T
ENST00000382292.9:c.8941C>T MANE Select	ENSP00000371729.3:p.Leu2981Phe
ENST00000423156.2:c.2186-5451C>T	ENSP00000390925.2:n.2186-5451C>T
ENST00000455470.6:c.2432-5451C>T	ENSP00000406565.2:n.2432-5451C>T
ENST00000382292.7:c.8941C>T	ENSP00000371729.3:p.Leu2981Phe
ENST00000382298.7:c.8941C>T	ENSP00000371735.3:p.Leu2981Phe
ENST00000402364.1:c.6691C>T	ENSP00000385844.1:p.Leu2231Phe
ENST00000423156.1:c.1058-5451C>T	ENSP00000390925.1:n.1058-5451C>T
ENST00000455470.5:c.2130-5451C>T
NM_001278055.1:c.8500C>T	NP_001264984.1:p.Leu2834Phe
NM_014363.5:c.8941C>T	NP_055178.3:p.Leu2981Phe
XM_005266338.1:c.8968C>T	XP_005266395.1:p.Leu2990Phe
XM_011535038.1:c.8992C>T	XP_011533340.1:p.Leu2998Phe
XM_011535039.1:c.8959C>T	XP_011533341.1:p.Leu2987Phe
XM_005266338.2:c.8968C>T	XP_005266395.1:p.Leu2990Phe
XM_011535039.2:c.8959C>T	XP_011533341.1:p.Leu2987Phe
XM_017020539.1:c.8932C>T	XP_016876028.1:p.Leu2978Phe
XM_024449337.1:c.8968C>T	XP_024305105.1:p.Leu2990Phe
NM_014363.6:c.8941C>T MANE Select	NP_055178.3:p.Leu2981Phe
NM_001278055.2:c.8500C>T	NP_001264984.1:p.Leu2834Phe