Canonical Allele Identifier: CA371330438

Gene: GGH

Linked Data

• gnomAD v4: 8-63026212-A-C
• MyVariant Identifiers: chr8:g.63938771A>C (hg19) ; chr8:g.63026212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026212A>C , CM000670.2:g.63026212A>C	GRCh38
NC_000008.10:g.63938771A>C , CM000670.1:g.63938771A>C	GRCh37
NC_000008.9:g.64101325A>C	NCBI36
NG_028126.1:g.17840T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.445T>G MANE Select	ENSP00000260118.6:p.Leu149Val
ENST00000518113.2:c.445T>G	ENSP00000504520.1:p.Leu149Val
ENST00000518466.6:n.408T>G
ENST00000523788.2:n.4257T>G
ENST00000677327.1:n.1084T>G
ENST00000677459.1:c.*360T>G	ENSP00000503731.1:n.*360T>G
ENST00000677482.1:c.445T>G	ENSP00000504590.1:p.Leu149Val
ENST00000677919.1:c.22T>G	ENSP00000504579.1:p.Leu8Val
ENST00000678045.1:n.1400T>G
ENST00000678069.1:n.3380T>G
ENST00000679326.1:c.445T>G	ENSP00000504262.1:p.Leu149Val
ENST00000260118.6:c.445T>G	ENSP00000260118.6:p.Leu149Val
ENST00000518113.1:n.220T>G
ENST00000518466.5:n.22T>G
ENST00000520609.5:n.478T>G
NM_003878.2:c.445T>G	NP_003869.1:p.Leu149Val
XM_011517623.1:c.445T>G	XP_011515925.1:p.Leu149Val
XM_011517623.3:c.445T>G	XP_011515925.1:p.Leu149Val
NM_003878.3:c.445T>G MANE Select	NP_003869.1:p.Leu149Val