Canonical Allele Identifier: CA371330423

Gene: GGH

Linked Data

• MyVariant Identifiers: chr8:g.63938764G>T (hg19) ; chr8:g.63026205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026205G>T , CM000670.2:g.63026205G>T	GRCh38
NC_000008.10:g.63938764G>T , CM000670.1:g.63938764G>T	GRCh37
NC_000008.9:g.64101318G>T	NCBI36
NG_028126.1:g.17847C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.452C>A MANE Select	ENSP00000260118.6:p.Thr151Asn
ENST00000518113.2:c.452C>A	ENSP00000504520.1:p.Thr151Asn
ENST00000518466.6:n.415C>A
ENST00000523788.2:n.4264C>A
ENST00000677327.1:n.1091C>A
ENST00000677459.1:c.*367C>A	ENSP00000503731.1:n.*367C>A
ENST00000677482.1:c.452C>A	ENSP00000504590.1:p.Thr151Asn
ENST00000677919.1:c.29C>A	ENSP00000504579.1:p.Thr10Asn
ENST00000678045.1:n.1407C>A
ENST00000678069.1:n.3387C>A
ENST00000679326.1:c.452C>A	ENSP00000504262.1:p.Thr151Asn
ENST00000260118.6:c.452C>A	ENSP00000260118.6:p.Thr151Asn
ENST00000518113.1:n.227C>A
ENST00000518466.5:n.29C>A
ENST00000520609.5:n.485C>A
NM_003878.2:c.452C>A	NP_003869.1:p.Thr151Asn
XM_011517623.1:c.452C>A	XP_011515925.1:p.Thr151Asn
XM_011517623.3:c.452C>A	XP_011515925.1:p.Thr151Asn
NM_003878.3:c.452C>A MANE Select	NP_003869.1:p.Thr151Asn