Canonical Allele Identifier: CA499924938

Gene: GSDMB

Linked Data

• gnomAD v4: 17-39905863-G-A
• COSMIC: COSM2838352 ; COSM2838353
• MyVariant Identifiers: chr17:g.38062116G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905863G>A , CM000679.2:g.39905863G>A	GRCh38
NC_000017.10:g.38062116G>A , CM000679.1:g.38062116G>A	GRCh37
NC_000017.9:g.35315642G>A	NCBI36
NG_015804.1:g.17788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.1011C>T MANE Select	ENSP00000415049.1:p.Phe337=
ENST00000309481.11:c.972C>T	ENSP00000312584.7:p.Phe324=
ENST00000360317.7:c.1011C>T	ENSP00000353465.3:p.Phe337=
ENST00000394175.6:c.945C>T	ENSP00000377729.2:p.Phe315=
ENST00000394179.5:c.972C>T	ENSP00000377733.2:p.Phe324=
ENST00000418519.5:c.1011C>T	ENSP00000415049.1:p.Phe337=
ENST00000477054.6:n.4199C>T
ENST00000479136.5:n.1752C>T
ENST00000486560.1:n.76C>T
ENST00000520542.5:c.984C>T	ENSP00000430157.1:p.Phe328=
ENST00000522564.5:c.718C>T	ENSP00000428217.1:n.718C>T
ENST00000523371.5:c.887C>T	ENSP00000429265.1:n.887C>T
ENST00000524039.5:c.860C>T	ENSP00000428712.1:n.860C>T
NM_001042471.1:c.972C>T	NP_001035936.1:p.Phe324=
NM_001165958.1:c.1011C>T	NP_001159430.1:p.Phe337=
NM_001165959.1:c.984C>T	NP_001159431.1:p.Phe328=
NM_018530.2:c.945C>T	NP_061000.2:p.Phe315=
XM_011525001.1:c.1023C>T	XP_011523303.1:p.Phe341=
XM_011525002.1:c.1023C>T	XP_011523304.1:p.Phe341=
XM_011525003.1:c.1023C>T	XP_011523305.1:p.Phe341=
XM_011525004.1:c.1023C>T	XP_011523306.1:p.Phe341=
XM_011525005.1:c.1023C>T	XP_011523307.1:p.Phe341=
XM_011525006.1:c.1023C>T	XP_011523308.1:p.Phe341=
XM_011525007.1:c.1023C>T	XP_011523309.1:p.Phe341=
XM_011525008.1:c.1023C>T	XP_011523310.1:p.Phe341=
XM_011525009.1:c.1023C>T	XP_011523311.1:p.Phe341=
XM_011525010.1:c.1023C>T	XP_011523312.1:p.Phe341=
XM_011525011.1:c.1023C>T	XP_011523313.1:p.Phe341=
XM_011525012.1:c.1023C>T	XP_011523314.1:p.Phe341=
XM_011525013.1:c.1023C>T	XP_011523315.1:p.Phe341=
XM_011525014.1:c.1023C>T	XP_011523316.1:p.Phe341=
XM_011525015.1:c.1023C>T	XP_011523317.1:p.Phe341=
XM_011525016.1:c.1011C>T	XP_011523318.1:p.Phe337=
XM_011525017.1:c.996C>T	XP_011523319.1:p.Phe332=
XM_011525018.1:c.984C>T	XP_011523320.1:p.Phe328=
XM_011525019.1:c.972C>T	XP_011523321.1:p.Phe324=
XM_011525020.1:c.945C>T	XP_011523322.1:p.Phe315=
XR_934504.1:n.2584C>T
NM_001369402.1:c.972C>T	NP_001356331.1:p.Phe324=
NM_001042471.2:c.972C>T	NP_001035936.1:p.Phe324=
NM_001165958.2:c.1011C>T MANE Select	NP_001159430.1:p.Phe337=
NM_001165959.2:c.984C>T	NP_001159431.1:p.Phe328=
NM_001369402.2:c.972C>T	NP_001356331.1:p.Phe324=
NM_001388420.1:c.1011C>T	NP_001375349.1:p.Phe337=
NM_001388421.1:c.984C>T	NP_001375350.1:p.Phe328=
NM_001388422.1:c.972C>T	NP_001375351.1:p.Phe324=
NM_001388423.1:c.945C>T	NP_001375352.1:p.Phe315=
NM_001388424.1:c.699C>T	NP_001375353.1:p.Phe233=
NM_018530.3:c.945C>T	NP_061000.2:p.Phe315=
NR_170970.1:n.1105C>T
NR_170971.1:n.2206C>T
NR_170972.1:n.2122C>T
NR_170973.1:n.2317C>T
NR_170974.1:n.2179C>T