Canonical Allele Identifier: CA461138500

Gene: GGH

Linked Data

• MyVariant Identifiers: chr8:g.63951298C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038739C>G , CM000670.2:g.63038739C>G	GRCh38
NC_000008.10:g.63951298C>G , CM000670.1:g.63951298C>G	GRCh37
NC_000008.9:g.64113852C>G	NCBI36
NG_028126.1:g.5313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.30G>C MANE Select	ENSP00000260118.6:p.Val10=
ENST00000518113.2:c.30G>C	ENSP00000504520.1:p.Val10=
ENST00000523788.2:n.57G>C
ENST00000677327.1:n.669G>C
ENST00000677459.1:c.30G>C	ENSP00000503731.1:p.Val10=
ENST00000677482.1:c.30G>C	ENSP00000504590.1:p.Val10=
ENST00000678069.1:n.64G>C
ENST00000679326.1:c.30G>C	ENSP00000504262.1:p.Val10=
ENST00000260118.6:c.30G>C	ENSP00000260118.6:p.Val10=
ENST00000518966.5:n.63G>C
ENST00000520609.5:n.63G>C
ENST00000523788.1:n.64G>C
NM_003878.2:c.30G>C	NP_003869.1:p.Val10=
XM_011517623.1:c.30G>C	XP_011515925.1:p.Val10=
XM_011517623.3:c.30G>C	XP_011515925.1:p.Val10=
NM_003878.3:c.30G>C MANE Select	NP_003869.1:p.Val10=