Canonical Allele Identifier: CA4852395

Gene: EIF3H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116755710C>T , CM000670.2:g.116755710C>T	GRCh38
NC_000008.10:g.117767949C>T , CM000670.1:g.117767949C>T	GRCh37
NC_000008.9:g.117837130C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003756.3:c.88G>A MANE Select	NP_003747.1:p.Gly30Ser
ENST00000521861.6:c.88G>A MANE Select	ENSP00000429931.1:p.Gly30Ser
NM_003756.2:c.88G>A	NP_003747.1:p.Gly30Ser
ENST00000276682.8:c.130G>A	ENSP00000276682.4:p.Gly44Ser
ENST00000517974.1:n.114G>A
ENST00000518034.5:n.114G>A
ENST00000518949.5:c.-37G>A	ENSP00000428195.1:n.-37G>A
ENST00000518995.5:c.88G>A	ENSP00000428669.1:p.Gly30Ser
ENST00000519046.5:c.88G>A	ENSP00000430926.1:p.Gly30Ser
ENST00000520813.1:c.130G>A	ENSP00000427908.1:p.Gly44Ser
ENST00000521861.5:c.88G>A	ENSP00000429931.1:p.Gly30Ser
ENST00000522453.1:c.88G>A	ENSP00000428885.1:p.Gly30Ser
ENST00000522800.5:c.88G>A	ENSP00000429884.1:p.Gly30Ser
ENST00000611080.1:c.88G>A	ENSP00000482724.1:p.Gly30Ser