Canonical Allele Identifier: CA178367099

Gene: GGH

Linked Data

• dbSNP Id: rs568081239
• gnomAD v2: 8-63951682-A-C
• gnomAD v3: 8-63039123-A-C
• gnomAD v4: 8-63039123-A-C
• MyVariant Identifiers: chr8:g.63951682A>C (hg19) ; chr8:g.63039123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039123A>C , CM000670.2:g.63039123A>C	GRCh38
NC_000008.10:g.63951682A>C , CM000670.1:g.63951682A>C	GRCh37
NC_000008.9:g.64114236A>C	NCBI36
NG_028126.1:g.4929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.285T>G
ENST00000679326.1:c.-355T>G	ENSP00000504262.1:n.-355T>G
ENST00000260118.6:c.-355T>G	ENSP00000260118.6:n.-355T>G
XM_011517623.1:c.-355T>G	XP_011515925.1:n.-355T>G