Canonical Allele Identifier: CA387507237

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23411238A>G , CM000675.2:g.23411238A>G	GRCh38
NC_000013.10:g.23985377A>G , CM000675.1:g.23985377A>G	GRCh37
NC_000013.9:g.22883377A>G	NCBI36
NG_012342.1:g.27465T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014363.6:c.2T>C MANE Select	NP_055178.3:p.Met1Thr
ENST00000382292.9:c.2T>C MANE Select	ENSP00000371729.3:p.Met1Thr
NM_014363.5:c.2T>C	NP_055178.3:p.Met1Thr
ENST00000382292.7:c.2T>C	ENSP00000371729.3:p.Met1Thr
ENST00000382298.7:c.2T>C	ENSP00000371735.3:p.Met1Thr
ENST00000423156.2:c.2T>C	ENSP00000390925.2:p.Met1Thr
ENST00000455470.6:c.2T>C	ENSP00000406565.2:p.Met1Thr
ENST00000682244.1:n.575T>C
ENST00000682547.1:c.39T>C	ENSP00000507735.1:p.His13=
ENST00000682775.1:c.2T>C	ENSP00000508399.1:p.Met1Thr
ENST00000682944.1:c.2T>C	ENSP00000507173.1:p.Met1Thr
ENST00000683210.1:c.2T>C	ENSP00000506739.1:p.Met1Thr
ENST00000683489.1:c.2T>C	ENSP00000508403.1:p.Met1Thr
ENST00000683638.1:n.652T>C
ENST00000683680.1:c.2T>C	ENSP00000507223.1:p.Met1Thr
ENST00000684325.1:c.2T>C	ENSP00000508121.1:p.Met1Thr
ENST00000684385.1:c.2T>C	ENSP00000507855.1:p.Met1Thr
ENST00000684497.1:c.2T>C	ENSP00000507057.1:p.Met1Thr
XM_005266338.1:c.2T>C	XP_005266395.1:p.Met1Thr
XM_005266338.2:c.2T>C	XP_005266395.1:p.Met1Thr
XM_024449337.1:c.2T>C	XP_024305105.1:p.Met1Thr