Canonical Allele Identifier: CA178367070

Gene: GGH

Linked Data

• dbSNP Id: rs990016194
• gnomAD v2: 8-63951587-C-T
• gnomAD v3: 8-63039028-C-T
• gnomAD v4: 8-63039028-C-T
• MyVariant Identifiers: chr8:g.63951587C>T (hg19) ; chr8:g.63039028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039028C>T , CM000670.2:g.63039028C>T	GRCh38
NC_000008.10:g.63951587C>T , CM000670.1:g.63951587C>T	GRCh37
NC_000008.9:g.64114141C>T	NCBI36
NG_028126.1:g.5024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.380G>A
ENST00000679326.1:c.-260G>A	ENSP00000504262.1:n.-260G>A
ENST00000260118.6:c.-260G>A	ENSP00000260118.6:n.-260G>A
NM_003878.2:c.-260G>A	NP_003869.1:n.-260G>A
XM_011517623.1:c.-260G>A	XP_011515925.1:n.-260G>A