Canonical Allele Identifier: CA399266692

Gene: GSDMB

Linked Data

• gnomAD v4: 17-39905856-C-T
• MyVariant Identifiers: chr17:g.38062109C>T (hg19) ; chr17:g.39905856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905856C>T , CM000679.2:g.39905856C>T	GRCh38
NC_000017.10:g.38062109C>T , CM000679.1:g.38062109C>T	GRCh37
NC_000017.9:g.35315635C>T	NCBI36
NG_015804.1:g.17795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.1018G>A MANE Select	ENSP00000415049.1:p.Ala340Thr
ENST00000309481.11:c.979G>A	ENSP00000312584.7:p.Ala327Thr
ENST00000360317.7:c.1018G>A	ENSP00000353465.3:p.Ala340Thr
ENST00000394175.6:c.952G>A	ENSP00000377729.2:p.Ala318Thr
ENST00000394179.5:c.979G>A	ENSP00000377733.2:p.Ala327Thr
ENST00000418519.5:c.1018G>A	ENSP00000415049.1:p.Ala340Thr
ENST00000477054.6:n.4206G>A
ENST00000479136.5:n.1759G>A
ENST00000486560.1:n.83G>A
ENST00000520542.5:c.991G>A	ENSP00000430157.1:p.Ala331Thr
ENST00000522564.5:c.725G>A	ENSP00000428217.1:n.725G>A
ENST00000523371.5:c.894G>A	ENSP00000429265.1:n.894G>A
ENST00000524039.5:c.867G>A	ENSP00000428712.1:n.867G>A
NM_001042471.1:c.979G>A	NP_001035936.1:p.Ala327Thr
NM_001165958.1:c.1018G>A	NP_001159430.1:p.Ala340Thr
NM_001165959.1:c.991G>A	NP_001159431.1:p.Ala331Thr
NM_018530.2:c.952G>A	NP_061000.2:p.Ala318Thr
XM_011525001.1:c.1030G>A	XP_011523303.1:p.Ala344Thr
XM_011525002.1:c.1030G>A	XP_011523304.1:p.Ala344Thr
XM_011525003.1:c.1030G>A	XP_011523305.1:p.Ala344Thr
XM_011525004.1:c.1030G>A	XP_011523306.1:p.Ala344Thr
XM_011525005.1:c.1030G>A	XP_011523307.1:p.Ala344Thr
XM_011525006.1:c.1030G>A	XP_011523308.1:p.Ala344Thr
XM_011525007.1:c.1030G>A	XP_011523309.1:p.Ala344Thr
XM_011525008.1:c.1030G>A	XP_011523310.1:p.Ala344Thr
XM_011525009.1:c.1030G>A	XP_011523311.1:p.Ala344Thr
XM_011525010.1:c.1030G>A	XP_011523312.1:p.Ala344Thr
XM_011525011.1:c.1030G>A	XP_011523313.1:p.Ala344Thr
XM_011525012.1:c.1030G>A	XP_011523314.1:p.Ala344Thr
XM_011525013.1:c.1030G>A	XP_011523315.1:p.Ala344Thr
XM_011525014.1:c.1030G>A	XP_011523316.1:p.Ala344Thr
XM_011525015.1:c.1030G>A	XP_011523317.1:p.Ala344Thr
XM_011525016.1:c.1018G>A	XP_011523318.1:p.Ala340Thr
XM_011525017.1:c.1003G>A	XP_011523319.1:p.Ala335Thr
XM_011525018.1:c.991G>A	XP_011523320.1:p.Ala331Thr
XM_011525019.1:c.979G>A	XP_011523321.1:p.Ala327Thr
XM_011525020.1:c.952G>A	XP_011523322.1:p.Ala318Thr
XR_934504.1:n.2591G>A
NM_001369402.1:c.979G>A	NP_001356331.1:p.Ala327Thr
NM_001042471.2:c.979G>A	NP_001035936.1:p.Ala327Thr
NM_001165958.2:c.1018G>A MANE Select	NP_001159430.1:p.Ala340Thr
NM_001165959.2:c.991G>A	NP_001159431.1:p.Ala331Thr
NM_001369402.2:c.979G>A	NP_001356331.1:p.Ala327Thr
NM_001388420.1:c.1018G>A	NP_001375349.1:p.Ala340Thr
NM_001388421.1:c.991G>A	NP_001375350.1:p.Ala331Thr
NM_001388422.1:c.979G>A	NP_001375351.1:p.Ala327Thr
NM_001388423.1:c.952G>A	NP_001375352.1:p.Ala318Thr
NM_001388424.1:c.706G>A	NP_001375353.1:p.Ala236Thr
NM_018530.3:c.952G>A	NP_061000.2:p.Ala318Thr
NR_170970.1:n.1112G>A
NR_170971.1:n.2213G>A
NR_170972.1:n.2129G>A
NR_170973.1:n.2324G>A
NR_170974.1:n.2186G>A