Canonical Allele Identifier: CA854142419

Gene: GGH

Linked Data

• dbSNP Id: rs1489471824
• gnomAD v3: 8-63039086-G-C
• gnomAD v4: 8-63039086-G-C
• MyVariant Identifiers: chr8:g.63951645G>C (hg19) ; chr8:g.63039086G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039086G>C , CM000670.2:g.63039086G>C	GRCh38
NC_000008.10:g.63951645G>C , CM000670.1:g.63951645G>C	GRCh37
NC_000008.9:g.64114199G>C	NCBI36
NG_028126.1:g.4966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.322C>G
ENST00000679326.1:c.-318C>G	ENSP00000504262.1:n.-318C>G
ENST00000260118.6:c.-318C>G	ENSP00000260118.6:n.-318C>G
XM_011517623.1:c.-318C>G	XP_011515925.1:n.-318C>G