Canonical Allele Identifier: CA399267254

Gene: GSDMB

Linked Data

• MyVariant Identifiers: chr17:g.38062237A>T (hg19) ; chr17:g.39905984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905984A>T , CM000679.2:g.39905984A>T	GRCh38
NC_000017.10:g.38062237A>T , CM000679.1:g.38062237A>T	GRCh37
NC_000017.9:g.35315763A>T	NCBI36
NG_015804.1:g.17667T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.890T>A MANE Select	ENSP00000415049.1:p.Val297Glu
ENST00000309481.11:c.851T>A	ENSP00000312584.7:p.Val284Glu
ENST00000360317.7:c.890T>A	ENSP00000353465.3:p.Val297Glu
ENST00000394175.6:c.824T>A	ENSP00000377729.2:p.Val275Glu
ENST00000394179.5:c.851T>A	ENSP00000377733.2:p.Val284Glu
ENST00000418519.5:c.890T>A	ENSP00000415049.1:p.Val297Glu
ENST00000468820.1:c.350T>A
ENST00000477054.6:n.4078T>A
ENST00000479136.5:n.1631T>A
ENST00000520542.5:c.863T>A	ENSP00000430157.1:p.Val288Glu
ENST00000522564.5:c.597T>A	ENSP00000428217.1:n.597T>A
ENST00000523371.5:c.766T>A	ENSP00000429265.1:n.766T>A
ENST00000524039.5:c.739T>A	ENSP00000428712.1:n.739T>A
NM_001042471.1:c.851T>A	NP_001035936.1:p.Val284Glu
NM_001165958.1:c.890T>A	NP_001159430.1:p.Val297Glu
NM_001165959.1:c.863T>A	NP_001159431.1:p.Val288Glu
NM_018530.2:c.824T>A	NP_061000.2:p.Val275Glu
XM_011525001.1:c.902T>A	XP_011523303.1:p.Val301Glu
XM_011525002.1:c.902T>A	XP_011523304.1:p.Val301Glu
XM_011525003.1:c.902T>A	XP_011523305.1:p.Val301Glu
XM_011525004.1:c.902T>A	XP_011523306.1:p.Val301Glu
XM_011525005.1:c.902T>A	XP_011523307.1:p.Val301Glu
XM_011525006.1:c.902T>A	XP_011523308.1:p.Val301Glu
XM_011525007.1:c.902T>A	XP_011523309.1:p.Val301Glu
XM_011525008.1:c.902T>A	XP_011523310.1:p.Val301Glu
XM_011525009.1:c.902T>A	XP_011523311.1:p.Val301Glu
XM_011525010.1:c.902T>A	XP_011523312.1:p.Val301Glu
XM_011525011.1:c.902T>A	XP_011523313.1:p.Val301Glu
XM_011525012.1:c.902T>A	XP_011523314.1:p.Val301Glu
XM_011525013.1:c.902T>A	XP_011523315.1:p.Val301Glu
XM_011525014.1:c.902T>A	XP_011523316.1:p.Val301Glu
XM_011525015.1:c.902T>A	XP_011523317.1:p.Val301Glu
XM_011525016.1:c.890T>A	XP_011523318.1:p.Val297Glu
XM_011525017.1:c.875T>A	XP_011523319.1:p.Val292Glu
XM_011525018.1:c.863T>A	XP_011523320.1:p.Val288Glu
XM_011525019.1:c.851T>A	XP_011523321.1:p.Val284Glu
XM_011525020.1:c.824T>A	XP_011523322.1:p.Val275Glu
XR_934504.1:n.2463T>A
NM_001369402.1:c.851T>A	NP_001356331.1:p.Val284Glu
NM_001042471.2:c.851T>A	NP_001035936.1:p.Val284Glu
NM_001165958.2:c.890T>A MANE Select	NP_001159430.1:p.Val297Glu
NM_001165959.2:c.863T>A	NP_001159431.1:p.Val288Glu
NM_001369402.2:c.851T>A	NP_001356331.1:p.Val284Glu
NM_001388420.1:c.890T>A	NP_001375349.1:p.Val297Glu
NM_001388421.1:c.863T>A	NP_001375350.1:p.Val288Glu
NM_001388422.1:c.851T>A	NP_001375351.1:p.Val284Glu
NM_001388423.1:c.824T>A	NP_001375352.1:p.Val275Glu
NM_001388424.1:c.578T>A	NP_001375353.1:p.Val193Glu
NM_018530.3:c.824T>A	NP_061000.2:p.Val275Glu
NR_170970.1:n.984T>A
NR_170971.1:n.2085T>A
NR_170972.1:n.2001T>A
NR_170973.1:n.2196T>A
NR_170974.1:n.2058T>A