Canonical Allele Identifier: CA399267436

Gene: GSDMB

Linked Data

• gnomAD v4: 17-39906151-C-A
• MyVariant Identifiers: chr17:g.38062404C>A (hg19) ; chr17:g.39906151C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39906151C>A , CM000679.2:g.39906151C>A	GRCh38
NC_000017.10:g.38062404C>A , CM000679.1:g.38062404C>A	GRCh37
NC_000017.9:g.35315930C>A	NCBI36
NG_015804.1:g.17500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.848G>T MANE Select	ENSP00000415049.1:p.Cys283Phe
ENST00000309481.11:c.809G>T	ENSP00000312584.7:p.Cys270Phe
ENST00000360317.7:c.848G>T	ENSP00000353465.3:p.Cys283Phe
ENST00000394175.6:c.782G>T	ENSP00000377729.2:p.Cys261Phe
ENST00000394179.5:c.809G>T	ENSP00000377733.2:p.Cys270Phe
ENST00000418519.5:c.848G>T	ENSP00000415049.1:p.Cys283Phe
ENST00000468820.1:c.308G>T
ENST00000477054.6:n.4036G>T
ENST00000479136.5:n.1589G>T
ENST00000520542.5:c.821G>T	ENSP00000430157.1:p.Cys274Phe
ENST00000522564.5:c.555G>T	ENSP00000428217.1:n.555G>T
ENST00000523371.5:c.724G>T	ENSP00000429265.1:n.724G>T
ENST00000524039.5:c.697G>T	ENSP00000428712.1:n.697G>T
NM_001042471.1:c.809G>T	NP_001035936.1:p.Cys270Phe
NM_001165958.1:c.848G>T	NP_001159430.1:p.Cys283Phe
NM_001165959.1:c.821G>T	NP_001159431.1:p.Cys274Phe
NM_018530.2:c.782G>T	NP_061000.2:p.Cys261Phe
XM_011525001.1:c.860G>T	XP_011523303.1:p.Cys287Phe
XM_011525002.1:c.860G>T	XP_011523304.1:p.Cys287Phe
XM_011525003.1:c.860G>T	XP_011523305.1:p.Cys287Phe
XM_011525004.1:c.860G>T	XP_011523306.1:p.Cys287Phe
XM_011525005.1:c.860G>T	XP_011523307.1:p.Cys287Phe
XM_011525006.1:c.860G>T	XP_011523308.1:p.Cys287Phe
XM_011525007.1:c.860G>T	XP_011523309.1:p.Cys287Phe
XM_011525008.1:c.860G>T	XP_011523310.1:p.Cys287Phe
XM_011525009.1:c.860G>T	XP_011523311.1:p.Cys287Phe
XM_011525010.1:c.860G>T	XP_011523312.1:p.Cys287Phe
XM_011525011.1:c.860G>T	XP_011523313.1:p.Cys287Phe
XM_011525012.1:c.860G>T	XP_011523314.1:p.Cys287Phe
XM_011525013.1:c.860G>T	XP_011523315.1:p.Cys287Phe
XM_011525014.1:c.860G>T	XP_011523316.1:p.Cys287Phe
XM_011525015.1:c.860G>T	XP_011523317.1:p.Cys287Phe
XM_011525016.1:c.848G>T	XP_011523318.1:p.Cys283Phe
XM_011525017.1:c.833G>T	XP_011523319.1:p.Cys278Phe
XM_011525018.1:c.821G>T	XP_011523320.1:p.Cys274Phe
XM_011525019.1:c.809G>T	XP_011523321.1:p.Cys270Phe
XM_011525020.1:c.782G>T	XP_011523322.1:p.Cys261Phe
XR_934504.1:n.2421G>T
NM_001369402.1:c.809G>T	NP_001356331.1:p.Cys270Phe
NM_001042471.2:c.809G>T	NP_001035936.1:p.Cys270Phe
NM_001165958.2:c.848G>T MANE Select	NP_001159430.1:p.Cys283Phe
NM_001165959.2:c.821G>T	NP_001159431.1:p.Cys274Phe
NM_001369402.2:c.809G>T	NP_001356331.1:p.Cys270Phe
NM_001388420.1:c.848G>T	NP_001375349.1:p.Cys283Phe
NM_001388421.1:c.821G>T	NP_001375350.1:p.Cys274Phe
NM_001388422.1:c.809G>T	NP_001375351.1:p.Cys270Phe
NM_001388423.1:c.782G>T	NP_001375352.1:p.Cys261Phe
NM_001388424.1:c.577-166G>T	NP_001375353.1:n.577-166G>T
NM_018530.3:c.782G>T	NP_061000.2:p.Cys261Phe
NR_170970.1:n.942G>T
NR_170971.1:n.2043G>T
NR_170972.1:n.1959G>T
NR_170973.1:n.2154G>T
NR_170974.1:n.2016G>T