Canonical Allele Identifier: CA4763012

Gene: GGH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63030158C>T , CM000670.2:g.63030158C>T	GRCh38
NC_000008.10:g.63942717C>T , CM000670.1:g.63942717C>T	GRCh37
NC_000008.9:g.64105271C>T	NCBI36
NG_028126.1:g.13894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.275+9G>A MANE Select	ENSP00000260118.6:n.275+9G>A
ENST00000518113.2:c.275+9G>A	ENSP00000504520.1:n.275+9G>A
ENST00000518466.6:n.238+9G>A
ENST00000523788.2:n.311G>A
ENST00000677327.1:n.914+9G>A
ENST00000677459.1:c.*190+9G>A	ENSP00000503731.1:n.*190+9G>A
ENST00000677482.1:c.275+9G>A	ENSP00000504590.1:n.275+9G>A
ENST00000678045.1:n.1230+9G>A
ENST00000678069.1:n.318G>A
ENST00000679326.1:c.275+9G>A	ENSP00000504262.1:n.275+9G>A
ENST00000260118.6:c.275+9G>A	ENSP00000260118.6:n.275+9G>A
ENST00000518113.1:n.50+9G>A
ENST00000518966.5:n.308+9G>A
ENST00000520609.5:n.308+9G>A
ENST00000523788.1:n.318G>A
NM_003878.2:c.275+9G>A	NP_003869.1:n.275+9G>A
XM_011517623.1:c.275+9G>A	XP_011515925.1:n.275+9G>A
XM_011517623.3:c.275+9G>A	XP_011515925.1:n.275+9G>A
NM_003878.3:c.275+9G>A MANE Select	NP_003869.1:n.275+9G>A