Canonical Allele Identifier: CA371331299

Gene: GGH

Linked Data

• dbSNP Id: rs765668706
• gnomAD v4: 8-63038690-G-A
• MyVariant Identifiers: chr8:g.63951249G>A (hg19) ; chr8:g.63038690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038690G>A , CM000670.2:g.63038690G>A	GRCh38
NC_000008.10:g.63951249G>A , CM000670.1:g.63951249G>A	GRCh37
NC_000008.9:g.64113803G>A	NCBI36
NG_028126.1:g.5362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.79C>T MANE Select	ENSP00000260118.6:p.His27Tyr
ENST00000518113.2:c.79C>T	ENSP00000504520.1:p.His27Tyr
ENST00000523788.2:n.106C>T
ENST00000677327.1:n.718C>T
ENST00000677459.1:c.79C>T	ENSP00000503731.1:p.His27Tyr
ENST00000677482.1:c.79C>T	ENSP00000504590.1:p.His27Tyr
ENST00000678069.1:n.113C>T
ENST00000679326.1:c.79C>T	ENSP00000504262.1:p.His27Tyr
ENST00000260118.6:c.79C>T	ENSP00000260118.6:p.His27Tyr
ENST00000518966.5:n.112C>T
ENST00000520609.5:n.112C>T
ENST00000523788.1:n.113C>T
NM_003878.2:c.79C>T	NP_003869.1:p.His27Tyr
XM_011517623.1:c.79C>T	XP_011515925.1:p.His27Tyr
XM_011517623.3:c.79C>T	XP_011515925.1:p.His27Tyr
NM_003878.3:c.79C>T MANE Select	NP_003869.1:p.His27Tyr