Canonical Allele Identifier: CA178367018

Gene: GGH

Linked Data

• dbSNP Id: rs1017207175
• gnomAD v2: 8-63951538-C-G
• gnomAD v3: 8-63038979-C-G
• gnomAD v4: 8-63038979-C-G
• MyVariant Identifiers: chr8:g.63951538C>G (hg19) ; chr8:g.63038979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038979C>G , CM000670.2:g.63038979C>G	GRCh38
NC_000008.10:g.63951538C>G , CM000670.1:g.63951538C>G	GRCh37
NC_000008.9:g.64114092C>G	NCBI36
NG_028126.1:g.5073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.429G>C
ENST00000679326.1:c.-211G>C	ENSP00000504262.1:n.-211G>C
ENST00000260118.6:c.-211G>C	ENSP00000260118.6:n.-211G>C
NM_003878.2:c.-211G>C	NP_003869.1:n.-211G>C
XM_011517623.1:c.-211G>C	XP_011515925.1:n.-211G>C