Canonical Allele Identifier: CA2687440259
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039018-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039018C>A , CM000670.2:g.63039018C>A GRCh38
NC_000008.10:g.63951577C>A , CM000670.1:g.63951577C>A GRCh37
NC_000008.9:g.64114131C>A NCBI36
NG_028126.1:g.5034G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.390G>T
ENST00000679326.1:c.-250G>T ENSP00000504262.1:n.-250G>T
ENST00000260118.6:c.-250G>T ENSP00000260118.6:n.-250G>T
NM_003878.2:c.-250G>T NP_003869.1:n.-250G>T
XM_011517623.1:c.-250G>T XP_011515925.1:n.-250G>T