Canonical Allele Identifier: CA178367069

Gene: GGH

Linked Data

• dbSNP Id: rs957042113
• gnomAD v2: 8-63951580-A-G
• gnomAD v3: 8-63039021-A-G
• gnomAD v4: 8-63039021-A-G
• MyVariant Identifiers: chr8:g.63951580A>G (hg19) ; chr8:g.63039021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039021A>G , CM000670.2:g.63039021A>G	GRCh38
NC_000008.10:g.63951580A>G , CM000670.1:g.63951580A>G	GRCh37
NC_000008.9:g.64114134A>G	NCBI36
NG_028126.1:g.5031T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.387T>C
ENST00000679326.1:c.-253T>C	ENSP00000504262.1:n.-253T>C
ENST00000260118.6:c.-253T>C	ENSP00000260118.6:n.-253T>C
NM_003878.2:c.-253T>C	NP_003869.1:n.-253T>C
XM_011517623.1:c.-253T>C	XP_011515925.1:n.-253T>C