Canonical Allele Identifier: CA1114587637
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs926921936
gnomAD v3: 8-63039017-C-T
gnomAD v4: 8-63039017-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039017C>T , CM000670.2:g.63039017C>T GRCh38
NC_000008.10:g.63951576C>T , CM000670.1:g.63951576C>T GRCh37
NC_000008.9:g.64114130C>T NCBI36
NG_028126.1:g.5035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.391G>A
ENST00000679326.1:c.-249G>A ENSP00000504262.1:n.-249G>A
ENST00000260118.6:c.-249G>A ENSP00000260118.6:n.-249G>A
NM_003878.2:c.-249G>A NP_003869.1:n.-249G>A
XM_011517623.1:c.-249G>A XP_011515925.1:n.-249G>A
Search 100 bp 5'
Search 100 bp 3'