Canonical Allele Identifier: CA854142418

Gene: GGH

Linked Data

• dbSNP Id: rs1189699839
• gnomAD v3: 8-63039083-C-T
• gnomAD v4: 8-63039083-C-T
• MyVariant Identifiers: chr8:g.63951642C>T (hg19) ; chr8:g.63039083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039083C>T , CM000670.2:g.63039083C>T	GRCh38
NC_000008.10:g.63951642C>T , CM000670.1:g.63951642C>T	GRCh37
NC_000008.9:g.64114196C>T	NCBI36
NG_028126.1:g.4969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.325G>A
ENST00000679326.1:c.-315G>A	ENSP00000504262.1:n.-315G>A
ENST00000260118.6:c.-315G>A	ENSP00000260118.6:n.-315G>A
XM_011517623.1:c.-315G>A	XP_011515925.1:n.-315G>A