Canonical Allele Identifier: CA1788917721

Gene: GGH

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026210T= , CM000670.2:g.63026210T=	GRCh38
NC_000008.10:g.63938769T= , CM000670.1:g.63938769T=	GRCh37
NC_000008.9:g.64101323T=	NCBI36
NG_028126.1:g.17842A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.447A= MANE Select	ENSP00000260118.6:p.Leu149=
ENST00000518113.2:c.447A=	ENSP00000504520.1:p.Leu149=
ENST00000518466.6:n.410A=
ENST00000523788.2:n.4259A=
ENST00000677327.1:n.1086A=
ENST00000677459.1:c.*362A=	ENSP00000503731.1:n.*362A=
ENST00000677482.1:c.447A=	ENSP00000504590.1:p.Leu149=
ENST00000677919.1:c.24A=	ENSP00000504579.1:p.Leu8=
ENST00000678045.1:n.1402A=
ENST00000678069.1:n.3382A=
ENST00000679326.1:c.447A=	ENSP00000504262.1:p.Leu149=
ENST00000260118.6:c.447A=	ENSP00000260118.6:p.Leu149=
ENST00000518113.1:n.222A=
ENST00000518466.5:n.24A=
ENST00000520609.5:n.480A=
NM_003878.2:c.447A=	NP_003869.1:p.Leu149=
XM_011517623.1:c.447A=	XP_011515925.1:p.Leu149=
XM_011517623.3:c.447A=	XP_011515925.1:p.Leu149=
NM_003878.3:c.447A= MANE Select	NP_003869.1:p.Leu149=