Canonical Allele Identifier: CA2637651437

Gene: GSDMB

Linked Data

• gnomAD v4: 17-39905708-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905708G>A , CM000679.2:g.39905708G>A	GRCh38
NC_000017.10:g.38061961G>A , CM000679.1:g.38061961G>A	GRCh37
NC_000017.9:g.35315487G>A	NCBI36
NG_015804.1:g.17943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.1027+139C>T MANE Select	ENSP00000415049.1:n.1027+139C>T
ENST00000309481.11:c.988+139C>T	ENSP00000312584.7:n.988+139C>T
ENST00000360317.7:c.1027+139C>T	ENSP00000353465.3:n.1027+139C>T
ENST00000394175.6:c.961+139C>T	ENSP00000377729.2:n.961+139C>T
ENST00000394179.5:c.988+139C>T	ENSP00000377733.2:n.988+139C>T
ENST00000418519.5:c.1027+139C>T	ENSP00000415049.1:n.1027+139C>T
ENST00000477054.6:n.4215+139C>T
ENST00000479136.5:n.1768+139C>T
ENST00000486560.1:n.92+139C>T
ENST00000520542.5:c.1000+139C>T	ENSP00000430157.1:n.1000+139C>T
ENST00000522564.5:c.734+139C>T	ENSP00000428217.1:n.734+139C>T
ENST00000523371.5:c.903+139C>T	ENSP00000429265.1:n.903+139C>T
ENST00000524039.5:c.876+139C>T	ENSP00000428712.1:n.876+139C>T
NM_001042471.1:c.988+139C>T	NP_001035936.1:n.988+139C>T
NM_001165958.1:c.1027+139C>T	NP_001159430.1:n.1027+139C>T
NM_001165959.1:c.1000+139C>T	NP_001159431.1:n.1000+139C>T
NM_018530.2:c.961+139C>T	NP_061000.2:n.961+139C>T
XM_011525001.1:c.1039+139C>T	XP_011523303.1:n.1039+139C>T
XM_011525002.1:c.1039+139C>T	XP_011523304.1:n.1039+139C>T
XM_011525003.1:c.1039+139C>T	XP_011523305.1:n.1039+139C>T
XM_011525004.1:c.1039+139C>T	XP_011523306.1:n.1039+139C>T
XM_011525005.1:c.1039+139C>T	XP_011523307.1:n.1039+139C>T
XM_011525006.1:c.1039+139C>T	XP_011523308.1:n.1039+139C>T
XM_011525007.1:c.1039+139C>T	XP_011523309.1:n.1039+139C>T
XM_011525008.1:c.1039+139C>T	XP_011523310.1:n.1039+139C>T
XM_011525009.1:c.1039+139C>T	XP_011523311.1:n.1039+139C>T
XM_011525010.1:c.1039+139C>T	XP_011523312.1:n.1039+139C>T
XM_011525011.1:c.1039+139C>T	XP_011523313.1:n.1039+139C>T
XM_011525012.1:c.1039+139C>T	XP_011523314.1:n.1039+139C>T
XM_011525013.1:c.1039+139C>T	XP_011523315.1:n.1039+139C>T
XM_011525014.1:c.1039+139C>T	XP_011523316.1:n.1039+139C>T
XM_011525015.1:c.1039+139C>T	XP_011523317.1:n.1039+139C>T
XM_011525016.1:c.1027+139C>T	XP_011523318.1:n.1027+139C>T
XM_011525017.1:c.1012+139C>T	XP_011523319.1:n.1012+139C>T
XM_011525018.1:c.1000+139C>T	XP_011523320.1:n.1000+139C>T
XM_011525019.1:c.988+139C>T	XP_011523321.1:n.988+139C>T
XM_011525020.1:c.961+139C>T	XP_011523322.1:n.961+139C>T
XR_934504.1:n.2600+139C>T
NM_001369402.1:c.988+139C>T	NP_001356331.1:n.988+139C>T
NM_001042471.2:c.988+139C>T	NP_001035936.1:n.988+139C>T
NM_001165958.2:c.1027+139C>T MANE Select	NP_001159430.1:n.1027+139C>T
NM_001165959.2:c.1000+139C>T	NP_001159431.1:n.1000+139C>T
NM_001369402.2:c.988+139C>T	NP_001356331.1:n.988+139C>T
NM_001388420.1:c.1027+139C>T	NP_001375349.1:n.1027+139C>T
NM_001388421.1:c.1000+139C>T	NP_001375350.1:n.1000+139C>T
NM_001388422.1:c.988+139C>T	NP_001375351.1:n.988+139C>T
NM_001388423.1:c.961+139C>T	NP_001375352.1:n.961+139C>T
NM_001388424.1:c.715+139C>T	NP_001375353.1:n.715+139C>T
NM_018530.3:c.961+139C>T	NP_061000.2:n.961+139C>T
NR_170970.1:n.1121+139C>T
NR_170971.1:n.2222+139C>T
NR_170972.1:n.2138+139C>T
NR_170973.1:n.2333+139C>T
NR_170974.1:n.2195+139C>T