Canonical Allele Identifier: CA2687440242
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs2129694602
gnomAD v4: 8-63039006-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039006G>A , CM000670.2:g.63039006G>A GRCh38
NC_000008.10:g.63951565G>A , CM000670.1:g.63951565G>A GRCh37
NC_000008.9:g.64114119G>A NCBI36
NG_028126.1:g.5046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.402C>T
ENST00000679326.1:c.-238C>T ENSP00000504262.1:n.-238C>T
ENST00000260118.6:c.-238C>T ENSP00000260118.6:n.-238C>T
NM_003878.2:c.-238C>T NP_003869.1:n.-238C>T
XM_011517623.1:c.-238C>T XP_011515925.1:n.-238C>T
Search 100 bp 5'
Search 100 bp 3'