Canonical Allele Identifier: CA371331323

Gene: GGH

Linked Data

• MyVariant Identifiers: chr8:g.63951263T>A (hg19) ; chr8:g.63038704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038704T>A , CM000670.2:g.63038704T>A	GRCh38
NC_000008.10:g.63951263T>A , CM000670.1:g.63951263T>A	GRCh37
NC_000008.9:g.64113817T>A	NCBI36
NG_028126.1:g.5348A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.65A>T MANE Select	ENSP00000260118.6:p.Glu22Val
ENST00000518113.2:c.65A>T	ENSP00000504520.1:p.Glu22Val
ENST00000523788.2:n.92A>T
ENST00000677327.1:n.704A>T
ENST00000677459.1:c.65A>T	ENSP00000503731.1:p.Glu22Val
ENST00000677482.1:c.65A>T	ENSP00000504590.1:p.Glu22Val
ENST00000678069.1:n.99A>T
ENST00000679326.1:c.65A>T	ENSP00000504262.1:p.Glu22Val
ENST00000260118.6:c.65A>T	ENSP00000260118.6:p.Glu22Val
ENST00000518966.5:n.98A>T
ENST00000520609.5:n.98A>T
ENST00000523788.1:n.99A>T
NM_003878.2:c.65A>T	NP_003869.1:p.Glu22Val
XM_011517623.1:c.65A>T	XP_011515925.1:p.Glu22Val
XM_011517623.3:c.65A>T	XP_011515925.1:p.Glu22Val
NM_003878.3:c.65A>T MANE Select	NP_003869.1:p.Glu22Val