Canonical Allele Identifier: CA2687439983

Gene: GGH

Linked Data

• gnomAD v4: 8-63038802-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038802T>C , CM000670.2:g.63038802T>C	GRCh38
NC_000008.10:g.63951361T>C , CM000670.1:g.63951361T>C	GRCh37
NC_000008.9:g.64113915T>C	NCBI36
NG_028126.1:g.5250A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.-34A>G MANE Select	ENSP00000260118.6:n.-34A>G
ENST00000677327.1:n.606A>G
ENST00000677459.1:c.-34A>G	ENSP00000503731.1:n.-34A>G
ENST00000677482.1:c.-34A>G	ENSP00000504590.1:n.-34A>G
ENST00000678069.1:n.1A>G
ENST00000679326.1:c.-34A>G	ENSP00000504262.1:n.-34A>G
ENST00000260118.6:c.-34A>G	ENSP00000260118.6:n.-34A>G
ENST00000523788.1:n.1A>G
NM_003878.2:c.-34A>G	NP_003869.1:n.-34A>G
XM_011517623.1:c.-34A>G	XP_011515925.1:n.-34A>G
XM_011517623.3:c.-34A>G	XP_011515925.1:n.-34A>G
NM_003878.3:c.-34A>G MANE Select	NP_003869.1:n.-34A>G