Canonical Allele Identifier: CA399266682

Gene: GSDMB

Linked Data

• dbSNP Id: rs1466928660
• gnomAD v2: 17-38062109-C-A
• gnomAD v4: 17-39905856-C-A
• MyVariant Identifiers: chr17:g.38062109C>A (hg19) ; chr17:g.39905856C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.1018G>T MANE Select	ENSP00000415049.1:p.Ala340Ser
ENST00000309481.11:c.979G>T	ENSP00000312584.7:p.Ala327Ser
ENST00000360317.7:c.1018G>T	ENSP00000353465.3:p.Ala340Ser
ENST00000394175.6:c.952G>T	ENSP00000377729.2:p.Ala318Ser
ENST00000394179.5:c.979G>T	ENSP00000377733.2:p.Ala327Ser
ENST00000418519.5:c.1018G>T	ENSP00000415049.1:p.Ala340Ser
ENST00000477054.6:n.4206G>T
ENST00000479136.5:n.1759G>T
ENST00000486560.1:n.83G>T
ENST00000520542.5:c.991G>T	ENSP00000430157.1:p.Ala331Ser
ENST00000522564.5:c.725G>T	ENSP00000428217.1:n.725G>T
ENST00000523371.5:c.894G>T	ENSP00000429265.1:n.894G>T
ENST00000524039.5:c.867G>T	ENSP00000428712.1:n.867G>T
NM_001042471.1:c.979G>T	NP_001035936.1:p.Ala327Ser
NM_001165958.1:c.1018G>T	NP_001159430.1:p.Ala340Ser
NM_001165959.1:c.991G>T	NP_001159431.1:p.Ala331Ser
NM_018530.2:c.952G>T	NP_061000.2:p.Ala318Ser
XM_011525001.1:c.1030G>T	XP_011523303.1:p.Ala344Ser
XM_011525002.1:c.1030G>T	XP_011523304.1:p.Ala344Ser
XM_011525003.1:c.1030G>T	XP_011523305.1:p.Ala344Ser
XM_011525004.1:c.1030G>T	XP_011523306.1:p.Ala344Ser
XM_011525005.1:c.1030G>T	XP_011523307.1:p.Ala344Ser
XM_011525006.1:c.1030G>T	XP_011523308.1:p.Ala344Ser
XM_011525007.1:c.1030G>T	XP_011523309.1:p.Ala344Ser
XM_011525008.1:c.1030G>T	XP_011523310.1:p.Ala344Ser
XM_011525009.1:c.1030G>T	XP_011523311.1:p.Ala344Ser
XM_011525010.1:c.1030G>T	XP_011523312.1:p.Ala344Ser
XM_011525011.1:c.1030G>T	XP_011523313.1:p.Ala344Ser
XM_011525012.1:c.1030G>T	XP_011523314.1:p.Ala344Ser
XM_011525013.1:c.1030G>T	XP_011523315.1:p.Ala344Ser
XM_011525014.1:c.1030G>T	XP_011523316.1:p.Ala344Ser
XM_011525015.1:c.1030G>T	XP_011523317.1:p.Ala344Ser
XM_011525016.1:c.1018G>T	XP_011523318.1:p.Ala340Ser
XM_011525017.1:c.1003G>T	XP_011523319.1:p.Ala335Ser
XM_011525018.1:c.991G>T	XP_011523320.1:p.Ala331Ser
XM_011525019.1:c.979G>T	XP_011523321.1:p.Ala327Ser
XM_011525020.1:c.952G>T	XP_011523322.1:p.Ala318Ser
XR_934504.1:n.2591G>T
NM_001369402.1:c.979G>T	NP_001356331.1:p.Ala327Ser
NM_001042471.2:c.979G>T	NP_001035936.1:p.Ala327Ser
NM_001165958.2:c.1018G>T MANE Select	NP_001159430.1:p.Ala340Ser
NM_001165959.2:c.991G>T	NP_001159431.1:p.Ala331Ser
NM_001369402.2:c.979G>T	NP_001356331.1:p.Ala327Ser
NM_001388420.1:c.1018G>T	NP_001375349.1:p.Ala340Ser
NM_001388421.1:c.991G>T	NP_001375350.1:p.Ala331Ser
NM_001388422.1:c.979G>T	NP_001375351.1:p.Ala327Ser
NM_001388423.1:c.952G>T	NP_001375352.1:p.Ala318Ser
NM_001388424.1:c.706G>T	NP_001375353.1:p.Ala236Ser
NM_018530.3:c.952G>T	NP_061000.2:p.Ala318Ser
NR_170970.1:n.1112G>T
NR_170971.1:n.2213G>T
NR_170972.1:n.2129G>T
NR_170973.1:n.2324G>T
NR_170974.1:n.2186G>T