Canonical Allele Identifier: CA2739317269

Gene: GGH

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63037353G>T , CM000670.2:g.63037353G>T	GRCh38
NC_000008.10:g.63949912G>T , CM000670.1:g.63949912G>T	GRCh37
NC_000008.9:g.64112466G>T	NCBI36
NG_028126.1:g.6699C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003878.3:c.109+1307C>A MANE Select	NP_003869.1:n.109+1307C>A
ENST00000260118.7:c.109+1307C>A MANE Select	ENSP00000260118.6:n.109+1307C>A
NM_003878.2:c.109+1307C>A	NP_003869.1:n.109+1307C>A
ENST00000260118.6:c.109+1307C>A	ENSP00000260118.6:n.109+1307C>A
ENST00000518113.2:c.109+1307C>A	ENSP00000504520.1:n.109+1307C>A
ENST00000518466.6:n.72+1121C>A
ENST00000518966.5:n.142+1307C>A
ENST00000520609.5:n.142+1307C>A
ENST00000523788.1:n.143+1307C>A
ENST00000523788.2:n.136+1307C>A
ENST00000677327.1:n.748+1307C>A
ENST00000677459.1:c.109+1307C>A	ENSP00000503731.1:n.109+1307C>A
ENST00000677482.1:c.109+1307C>A	ENSP00000504590.1:n.109+1307C>A
ENST00000678069.1:n.143+1307C>A
ENST00000679326.1:c.109+1307C>A	ENSP00000504262.1:n.109+1307C>A
XM_011517623.1:c.109+1307C>A	XP_011515925.1:n.109+1307C>A
XM_011517623.3:c.109+1307C>A	XP_011515925.1:n.109+1307C>A