Canonical Allele Identifier: CA8536258

Gene: GSDMB

Linked Data

• dbSNP Id: rs774825194
• ExAC: 17:38062411 C / T
• gnomAD v2: 17-38062411-C-T
• gnomAD v4: 17-39906158-C-T
• COSMIC: COSM978718 ; COSM978719
• MyVariant Identifiers: chr17:g.38062411C>T (hg19) ; chr17:g.39906158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39906158C>T , CM000679.2:g.39906158C>T	GRCh38
NC_000017.10:g.38062411C>T , CM000679.1:g.38062411C>T	GRCh37
NC_000017.9:g.35315937C>T	NCBI36
NG_015804.1:g.17493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.841G>A MANE Select	ENSP00000415049.1:p.Ala281Thr
ENST00000309481.11:c.802G>A	ENSP00000312584.7:p.Ala268Thr
ENST00000360317.7:c.841G>A	ENSP00000353465.3:p.Ala281Thr
ENST00000394175.6:c.775G>A	ENSP00000377729.2:p.Ala259Thr
ENST00000394179.5:c.802G>A	ENSP00000377733.2:p.Ala268Thr
ENST00000418519.5:c.841G>A	ENSP00000415049.1:p.Ala281Thr
ENST00000468820.1:c.301G>A
ENST00000477054.6:n.4029G>A
ENST00000479136.5:n.1582G>A
ENST00000520542.5:c.814G>A	ENSP00000430157.1:p.Ala272Thr
ENST00000522564.5:c.548G>A	ENSP00000428217.1:p.Arg183His
ENST00000523371.5:c.717G>A	ENSP00000429265.1:n.717G>A
ENST00000524039.5:c.690G>A	ENSP00000428712.1:n.690G>A
NM_001042471.1:c.802G>A	NP_001035936.1:p.Ala268Thr
NM_001165958.1:c.841G>A	NP_001159430.1:p.Ala281Thr
NM_001165959.1:c.814G>A	NP_001159431.1:p.Ala272Thr
NM_018530.2:c.775G>A	NP_061000.2:p.Ala259Thr
XM_011525001.1:c.853G>A	XP_011523303.1:p.Ala285Thr
XM_011525002.1:c.853G>A	XP_011523304.1:p.Ala285Thr
XM_011525003.1:c.853G>A	XP_011523305.1:p.Ala285Thr
XM_011525004.1:c.853G>A	XP_011523306.1:p.Ala285Thr
XM_011525005.1:c.853G>A	XP_011523307.1:p.Ala285Thr
XM_011525006.1:c.853G>A	XP_011523308.1:p.Ala285Thr
XM_011525007.1:c.853G>A	XP_011523309.1:p.Ala285Thr
XM_011525008.1:c.853G>A	XP_011523310.1:p.Ala285Thr
XM_011525009.1:c.853G>A	XP_011523311.1:p.Ala285Thr
XM_011525010.1:c.853G>A	XP_011523312.1:p.Ala285Thr
XM_011525011.1:c.853G>A	XP_011523313.1:p.Ala285Thr
XM_011525012.1:c.853G>A	XP_011523314.1:p.Ala285Thr
XM_011525013.1:c.853G>A	XP_011523315.1:p.Ala285Thr
XM_011525014.1:c.853G>A	XP_011523316.1:p.Ala285Thr
XM_011525015.1:c.853G>A	XP_011523317.1:p.Ala285Thr
XM_011525016.1:c.841G>A	XP_011523318.1:p.Ala281Thr
XM_011525017.1:c.826G>A	XP_011523319.1:p.Ala276Thr
XM_011525018.1:c.814G>A	XP_011523320.1:p.Ala272Thr
XM_011525019.1:c.802G>A	XP_011523321.1:p.Ala268Thr
XM_011525020.1:c.775G>A	XP_011523322.1:p.Ala259Thr
XR_934504.1:n.2414G>A
NM_001369402.1:c.802G>A	NP_001356331.1:p.Ala268Thr
NM_001042471.2:c.802G>A	NP_001035936.1:p.Ala268Thr
NM_001165958.2:c.841G>A MANE Select	NP_001159430.1:p.Ala281Thr
NM_001165959.2:c.814G>A	NP_001159431.1:p.Ala272Thr
NM_001369402.2:c.802G>A	NP_001356331.1:p.Ala268Thr
NM_001388420.1:c.841G>A	NP_001375349.1:p.Ala281Thr
NM_001388421.1:c.814G>A	NP_001375350.1:p.Ala272Thr
NM_001388422.1:c.802G>A	NP_001375351.1:p.Ala268Thr
NM_001388423.1:c.775G>A	NP_001375352.1:p.Ala259Thr
NM_001388424.1:c.577-173G>A	NP_001375353.1:n.577-173G>A
NM_018530.3:c.775G>A	NP_061000.2:p.Ala259Thr
NR_170970.1:n.935G>A
NR_170971.1:n.2036G>A
NR_170972.1:n.1952G>A
NR_170973.1:n.2147G>A
NR_170974.1:n.2009G>A