Canonical Allele Identifier: CA178366640

Gene: GGH

Linked Data

• dbSNP Id: rs376225287
• gnomAD v3: 8-63038763-G-C
• gnomAD v4: 8-63038763-G-C
• MyVariant Identifiers: chr8:g.63951322G>C (hg19) ; chr8:g.63038763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038763G>C , CM000670.2:g.63038763G>C	GRCh38
NC_000008.10:g.63951322G>C , CM000670.1:g.63951322G>C	GRCh37
NC_000008.9:g.64113876G>C	NCBI36
NG_028126.1:g.5289C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.6C>G MANE Select	ENSP00000260118.6:p.Ala2=
ENST00000518113.2:c.6C>G	ENSP00000504520.1:p.Ala2=
ENST00000523788.2:n.33C>G
ENST00000677327.1:n.645C>G
ENST00000677459.1:c.6C>G	ENSP00000503731.1:p.Ala2=
ENST00000677482.1:c.6C>G	ENSP00000504590.1:p.Ala2=
ENST00000678069.1:n.40C>G
ENST00000679326.1:c.6C>G	ENSP00000504262.1:p.Ala2=
ENST00000260118.6:c.6C>G	ENSP00000260118.6:p.Ala2=
ENST00000518966.5:n.39C>G
ENST00000520609.5:n.39C>G
ENST00000523788.1:n.40C>G
NM_003878.2:c.6C>G	NP_003869.1:p.Ala2=
XM_011517623.1:c.6C>G	XP_011515925.1:p.Ala2=
XM_011517623.3:c.6C>G	XP_011515925.1:p.Ala2=
NM_003878.3:c.6C>G MANE Select	NP_003869.1:p.Ala2=