Canonical Allele Identifier: CA371330424

Gene: GGH

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026206T>A , CM000670.2:g.63026206T>A	GRCh38
NC_000008.10:g.63938765T>A , CM000670.1:g.63938765T>A	GRCh37
NC_000008.9:g.64101319T>A	NCBI36
NG_028126.1:g.17846A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003878.3:c.451A>T MANE Select	NP_003869.1:p.Thr151Ser
ENST00000260118.7:c.451A>T MANE Select	ENSP00000260118.6:p.Thr151Ser
NM_003878.2:c.451A>T	NP_003869.1:p.Thr151Ser
ENST00000260118.6:c.451A>T	ENSP00000260118.6:p.Thr151Ser
ENST00000518113.1:n.226A>T
ENST00000518113.2:c.451A>T	ENSP00000504520.1:p.Thr151Ser
ENST00000518466.5:n.28A>T
ENST00000518466.6:n.414A>T
ENST00000520609.5:n.484A>T
ENST00000523788.2:n.4263A>T
ENST00000677327.1:n.1090A>T
ENST00000677459.1:c.*366A>T	ENSP00000503731.1:n.*366A>T
ENST00000677482.1:c.451A>T	ENSP00000504590.1:p.Thr151Ser
ENST00000677919.1:c.28A>T	ENSP00000504579.1:p.Thr10Ser
ENST00000678045.1:n.1406A>T
ENST00000678069.1:n.3386A>T
ENST00000679326.1:c.451A>T	ENSP00000504262.1:p.Thr151Ser
XM_011517623.1:c.451A>T	XP_011515925.1:p.Thr151Ser
XM_011517623.3:c.451A>T	XP_011515925.1:p.Thr151Ser