Canonical Allele Identifier: CA399267412

Gene: GSDMB

Linked Data

• MyVariant Identifiers: chr17:g.38062396T>G (hg19) ; chr17:g.39906143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39906143T>G , CM000679.2:g.39906143T>G	GRCh38
NC_000017.10:g.38062396T>G , CM000679.1:g.38062396T>G	GRCh37
NC_000017.9:g.35315922T>G	NCBI36
NG_015804.1:g.17508A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.856A>C MANE Select	ENSP00000415049.1:p.Lys286Gln
ENST00000309481.11:c.817A>C	ENSP00000312584.7:p.Lys273Gln
ENST00000360317.7:c.856A>C	ENSP00000353465.3:p.Lys286Gln
ENST00000394175.6:c.790A>C	ENSP00000377729.2:p.Lys264Gln
ENST00000394179.5:c.817A>C	ENSP00000377733.2:p.Lys273Gln
ENST00000418519.5:c.856A>C	ENSP00000415049.1:p.Lys286Gln
ENST00000468820.1:c.316A>C
ENST00000477054.6:n.4044A>C
ENST00000479136.5:n.1597A>C
ENST00000520542.5:c.829A>C	ENSP00000430157.1:p.Lys277Gln
ENST00000522564.5:c.563A>C	ENSP00000428217.1:n.563A>C
ENST00000523371.5:c.732A>C	ENSP00000429265.1:n.732A>C
ENST00000524039.5:c.705A>C	ENSP00000428712.1:n.705A>C
NM_001042471.1:c.817A>C	NP_001035936.1:p.Lys273Gln
NM_001165958.1:c.856A>C	NP_001159430.1:p.Lys286Gln
NM_001165959.1:c.829A>C	NP_001159431.1:p.Lys277Gln
NM_018530.2:c.790A>C	NP_061000.2:p.Lys264Gln
XM_011525001.1:c.868A>C	XP_011523303.1:p.Lys290Gln
XM_011525002.1:c.868A>C	XP_011523304.1:p.Lys290Gln
XM_011525003.1:c.868A>C	XP_011523305.1:p.Lys290Gln
XM_011525004.1:c.868A>C	XP_011523306.1:p.Lys290Gln
XM_011525005.1:c.868A>C	XP_011523307.1:p.Lys290Gln
XM_011525006.1:c.868A>C	XP_011523308.1:p.Lys290Gln
XM_011525007.1:c.868A>C	XP_011523309.1:p.Lys290Gln
XM_011525008.1:c.868A>C	XP_011523310.1:p.Lys290Gln
XM_011525009.1:c.868A>C	XP_011523311.1:p.Lys290Gln
XM_011525010.1:c.868A>C	XP_011523312.1:p.Lys290Gln
XM_011525011.1:c.868A>C	XP_011523313.1:p.Lys290Gln
XM_011525012.1:c.868A>C	XP_011523314.1:p.Lys290Gln
XM_011525013.1:c.868A>C	XP_011523315.1:p.Lys290Gln
XM_011525014.1:c.868A>C	XP_011523316.1:p.Lys290Gln
XM_011525015.1:c.868A>C	XP_011523317.1:p.Lys290Gln
XM_011525016.1:c.856A>C	XP_011523318.1:p.Lys286Gln
XM_011525017.1:c.841A>C	XP_011523319.1:p.Lys281Gln
XM_011525018.1:c.829A>C	XP_011523320.1:p.Lys277Gln
XM_011525019.1:c.817A>C	XP_011523321.1:p.Lys273Gln
XM_011525020.1:c.790A>C	XP_011523322.1:p.Lys264Gln
XR_934504.1:n.2429A>C
NM_001369402.1:c.817A>C	NP_001356331.1:p.Lys273Gln
NM_001042471.2:c.817A>C	NP_001035936.1:p.Lys273Gln
NM_001165958.2:c.856A>C MANE Select	NP_001159430.1:p.Lys286Gln
NM_001165959.2:c.829A>C	NP_001159431.1:p.Lys277Gln
NM_001369402.2:c.817A>C	NP_001356331.1:p.Lys273Gln
NM_001388420.1:c.856A>C	NP_001375349.1:p.Lys286Gln
NM_001388421.1:c.829A>C	NP_001375350.1:p.Lys277Gln
NM_001388422.1:c.817A>C	NP_001375351.1:p.Lys273Gln
NM_001388423.1:c.790A>C	NP_001375352.1:p.Lys264Gln
NM_001388424.1:c.577-158A>C	NP_001375353.1:n.577-158A>C
NM_018530.3:c.790A>C	NP_061000.2:p.Lys264Gln
NR_170970.1:n.950A>C
NR_170971.1:n.2051A>C
NR_170972.1:n.1967A>C
NR_170973.1:n.2162A>C
NR_170974.1:n.2024A>C