Canonical Allele Identifier: CA399267130

Gene: GSDMB

Linked Data

• MyVariant Identifiers: chr17:g.38062202C>G (hg19) ; chr17:g.39905949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905949C>G , CM000679.2:g.39905949C>G	GRCh38
NC_000017.10:g.38062202C>G , CM000679.1:g.38062202C>G	GRCh37
NC_000017.9:g.35315728C>G	NCBI36
NG_015804.1:g.17702G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000418519.6:c.925G>C MANE Select	ENSP00000415049.1:p.Glu309Gln
ENST00000309481.11:c.886G>C	ENSP00000312584.7:p.Glu296Gln
ENST00000360317.7:c.925G>C	ENSP00000353465.3:p.Glu309Gln
ENST00000394175.6:c.859G>C	ENSP00000377729.2:p.Glu287Gln
ENST00000394179.5:c.886G>C	ENSP00000377733.2:p.Glu296Gln
ENST00000418519.5:c.925G>C	ENSP00000415049.1:p.Glu309Gln
ENST00000477054.6:n.4113G>C
ENST00000479136.5:n.1666G>C
ENST00000520542.5:c.898G>C	ENSP00000430157.1:p.Glu300Gln
ENST00000522564.5:c.632G>C	ENSP00000428217.1:n.632G>C
ENST00000523371.5:c.801G>C	ENSP00000429265.1:n.801G>C
ENST00000524039.5:c.774G>C	ENSP00000428712.1:n.774G>C
NM_001042471.1:c.886G>C	NP_001035936.1:p.Glu296Gln
NM_001165958.1:c.925G>C	NP_001159430.1:p.Glu309Gln
NM_001165959.1:c.898G>C	NP_001159431.1:p.Glu300Gln
NM_018530.2:c.859G>C	NP_061000.2:p.Glu287Gln
XM_011525001.1:c.937G>C	XP_011523303.1:p.Glu313Gln
XM_011525002.1:c.937G>C	XP_011523304.1:p.Glu313Gln
XM_011525003.1:c.937G>C	XP_011523305.1:p.Glu313Gln
XM_011525004.1:c.937G>C	XP_011523306.1:p.Glu313Gln
XM_011525005.1:c.937G>C	XP_011523307.1:p.Glu313Gln
XM_011525006.1:c.937G>C	XP_011523308.1:p.Glu313Gln
XM_011525007.1:c.937G>C	XP_011523309.1:p.Glu313Gln
XM_011525008.1:c.937G>C	XP_011523310.1:p.Glu313Gln
XM_011525009.1:c.937G>C	XP_011523311.1:p.Glu313Gln
XM_011525010.1:c.937G>C	XP_011523312.1:p.Glu313Gln
XM_011525011.1:c.937G>C	XP_011523313.1:p.Glu313Gln
XM_011525012.1:c.937G>C	XP_011523314.1:p.Glu313Gln
XM_011525013.1:c.937G>C	XP_011523315.1:p.Glu313Gln
XM_011525014.1:c.937G>C	XP_011523316.1:p.Glu313Gln
XM_011525015.1:c.937G>C	XP_011523317.1:p.Glu313Gln
XM_011525016.1:c.925G>C	XP_011523318.1:p.Glu309Gln
XM_011525017.1:c.910G>C	XP_011523319.1:p.Glu304Gln
XM_011525018.1:c.898G>C	XP_011523320.1:p.Glu300Gln
XM_011525019.1:c.886G>C	XP_011523321.1:p.Glu296Gln
XM_011525020.1:c.859G>C	XP_011523322.1:p.Glu287Gln
XR_934504.1:n.2498G>C
NM_001369402.1:c.886G>C	NP_001356331.1:p.Glu296Gln
NM_001042471.2:c.886G>C	NP_001035936.1:p.Glu296Gln
NM_001165958.2:c.925G>C MANE Select	NP_001159430.1:p.Glu309Gln
NM_001165959.2:c.898G>C	NP_001159431.1:p.Glu300Gln
NM_001369402.2:c.886G>C	NP_001356331.1:p.Glu296Gln
NM_001388420.1:c.925G>C	NP_001375349.1:p.Glu309Gln
NM_001388421.1:c.898G>C	NP_001375350.1:p.Glu300Gln
NM_001388422.1:c.886G>C	NP_001375351.1:p.Glu296Gln
NM_001388423.1:c.859G>C	NP_001375352.1:p.Glu287Gln
NM_001388424.1:c.613G>C	NP_001375353.1:p.Glu205Gln
NM_018530.3:c.859G>C	NP_061000.2:p.Glu287Gln
NR_170970.1:n.1019G>C
NR_170971.1:n.2120G>C
NR_170972.1:n.2036G>C
NR_170973.1:n.2231G>C
NR_170974.1:n.2093G>C