Canonical Allele Identifier: CA371330427

Gene: GGH

Linked Data

• dbSNP Id: rs2129656628
• MyVariant Identifiers: chr8:g.63938766T>A (hg19) ; chr8:g.63026207T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026207T>A , CM000670.2:g.63026207T>A	GRCh38
NC_000008.10:g.63938766T>A , CM000670.1:g.63938766T>A	GRCh37
NC_000008.9:g.64101320T>A	NCBI36
NG_028126.1:g.17845A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.450A>T MANE Select	ENSP00000260118.6:p.Leu150Phe
ENST00000518113.2:c.450A>T	ENSP00000504520.1:p.Leu150Phe
ENST00000518466.6:n.413A>T
ENST00000523788.2:n.4262A>T
ENST00000677327.1:n.1089A>T
ENST00000677459.1:c.*365A>T	ENSP00000503731.1:n.*365A>T
ENST00000677482.1:c.450A>T	ENSP00000504590.1:p.Leu150Phe
ENST00000677919.1:c.27A>T	ENSP00000504579.1:p.Leu9Phe
ENST00000678045.1:n.1405A>T
ENST00000678069.1:n.3385A>T
ENST00000679326.1:c.450A>T	ENSP00000504262.1:p.Leu150Phe
ENST00000260118.6:c.450A>T	ENSP00000260118.6:p.Leu150Phe
ENST00000518113.1:n.225A>T
ENST00000518466.5:n.27A>T
ENST00000520609.5:n.483A>T
NM_003878.2:c.450A>T	NP_003869.1:p.Leu150Phe
XM_011517623.1:c.450A>T	XP_011515925.1:p.Leu150Phe
XM_011517623.3:c.450A>T	XP_011515925.1:p.Leu150Phe
NM_003878.3:c.450A>T MANE Select	NP_003869.1:p.Leu150Phe