Canonical Allele Identifier: CA8536212

Gene: GSDMB

Linked Data

• dbSNP Id: rs373291897
• ExAC: 17:38062138 C / A
• gnomAD v2: 17-38062138-C-A
• gnomAD v3: 17-39905885-C-A
• gnomAD v4: 17-39905885-C-A
• MyVariant Identifiers: chr17:g.38062138C>A (hg19) ; chr17:g.39905885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905885C>A , CM000679.2:g.39905885C>A	GRCh38
NC_000017.10:g.38062138C>A , CM000679.1:g.38062138C>A	GRCh37
NC_000017.9:g.35315664C>A	NCBI36
NG_015804.1:g.17766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.989G>T MANE Select	ENSP00000415049.1:p.Arg330Leu
ENST00000309481.11:c.950G>T	ENSP00000312584.7:p.Arg317Leu
ENST00000360317.7:c.989G>T	ENSP00000353465.3:p.Arg330Leu
ENST00000394175.6:c.923G>T	ENSP00000377729.2:p.Arg308Leu
ENST00000394179.5:c.950G>T	ENSP00000377733.2:p.Arg317Leu
ENST00000418519.5:c.989G>T	ENSP00000415049.1:p.Arg330Leu
ENST00000477054.6:n.4177G>T
ENST00000479136.5:n.1730G>T
ENST00000486560.1:n.54G>T
ENST00000520542.5:c.962G>T	ENSP00000430157.1:p.Arg321Leu
ENST00000522564.5:c.696G>T	ENSP00000428217.1:n.696G>T
ENST00000523371.5:c.865G>T	ENSP00000429265.1:n.865G>T
ENST00000524039.5:c.838G>T	ENSP00000428712.1:n.838G>T
NM_001042471.1:c.950G>T	NP_001035936.1:p.Arg317Leu
NM_001165958.1:c.989G>T	NP_001159430.1:p.Arg330Leu
NM_001165959.1:c.962G>T	NP_001159431.1:p.Arg321Leu
NM_018530.2:c.923G>T	NP_061000.2:p.Arg308Leu
XM_011525001.1:c.1001G>T	XP_011523303.1:p.Arg334Leu
XM_011525002.1:c.1001G>T	XP_011523304.1:p.Arg334Leu
XM_011525003.1:c.1001G>T	XP_011523305.1:p.Arg334Leu
XM_011525004.1:c.1001G>T	XP_011523306.1:p.Arg334Leu
XM_011525005.1:c.1001G>T	XP_011523307.1:p.Arg334Leu
XM_011525006.1:c.1001G>T	XP_011523308.1:p.Arg334Leu
XM_011525007.1:c.1001G>T	XP_011523309.1:p.Arg334Leu
XM_011525008.1:c.1001G>T	XP_011523310.1:p.Arg334Leu
XM_011525009.1:c.1001G>T	XP_011523311.1:p.Arg334Leu
XM_011525010.1:c.1001G>T	XP_011523312.1:p.Arg334Leu
XM_011525011.1:c.1001G>T	XP_011523313.1:p.Arg334Leu
XM_011525012.1:c.1001G>T	XP_011523314.1:p.Arg334Leu
XM_011525013.1:c.1001G>T	XP_011523315.1:p.Arg334Leu
XM_011525014.1:c.1001G>T	XP_011523316.1:p.Arg334Leu
XM_011525015.1:c.1001G>T	XP_011523317.1:p.Arg334Leu
XM_011525016.1:c.989G>T	XP_011523318.1:p.Arg330Leu
XM_011525017.1:c.974G>T	XP_011523319.1:p.Arg325Leu
XM_011525018.1:c.962G>T	XP_011523320.1:p.Arg321Leu
XM_011525019.1:c.950G>T	XP_011523321.1:p.Arg317Leu
XM_011525020.1:c.923G>T	XP_011523322.1:p.Arg308Leu
XR_934504.1:n.2562G>T
NM_001369402.1:c.950G>T	NP_001356331.1:p.Arg317Leu
NM_001042471.2:c.950G>T	NP_001035936.1:p.Arg317Leu
NM_001165958.2:c.989G>T MANE Select	NP_001159430.1:p.Arg330Leu
NM_001165959.2:c.962G>T	NP_001159431.1:p.Arg321Leu
NM_001369402.2:c.950G>T	NP_001356331.1:p.Arg317Leu
NM_001388420.1:c.989G>T	NP_001375349.1:p.Arg330Leu
NM_001388421.1:c.962G>T	NP_001375350.1:p.Arg321Leu
NM_001388422.1:c.950G>T	NP_001375351.1:p.Arg317Leu
NM_001388423.1:c.923G>T	NP_001375352.1:p.Arg308Leu
NM_001388424.1:c.677G>T	NP_001375353.1:p.Arg226Leu
NM_018530.3:c.923G>T	NP_061000.2:p.Arg308Leu
NR_170970.1:n.1083G>T
NR_170971.1:n.2184G>T
NR_170972.1:n.2100G>T
NR_170973.1:n.2295G>T
NR_170974.1:n.2157G>T