Canonical Allele Identifier: CA1788915279

Gene: GGH

Linked Data

• dbSNP Id: rs1031552

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63020631G>C , CM000670.2:g.63020631G>C	GRCh38
NC_000008.10:g.63933190G>C , CM000670.1:g.63933190G>C	GRCh37
NC_000008.9:g.64095744G>C	NCBI36
NG_028126.1:g.23421C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.698-3001C>G MANE Select	ENSP00000260118.6:n.698-3001C>G
ENST00000518466.6:n.661-3001C>G
ENST00000523788.2:n.4510-3001C>G
ENST00000677327.1:n.1337-3001C>G
ENST00000677459.1:c.*613-3001C>G	ENSP00000503731.1:n.*613-3001C>G
ENST00000677482.1:c.640-3001C>G	ENSP00000504590.1:n.640-3001C>G
ENST00000677919.1:c.184-3001C>G	ENSP00000504579.1:n.184-3001C>G
ENST00000678069.1:n.3633-3001C>G
ENST00000679326.1:c.698-3001C>G	ENSP00000504262.1:n.698-3001C>G
ENST00000260118.6:c.698-3001C>G	ENSP00000260118.6:n.698-3001C>G
ENST00000518466.5:n.184-3001C>G
ENST00000520609.5:n.813-3001C>G
NM_003878.2:c.698-3001C>G	NP_003869.1:n.698-3001C>G
NM_003878.3:c.698-3001C>G MANE Select	NP_003869.1:n.698-3001C>G