Canonical Allele Identifier: CA2542798876
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038944-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038944G>A , CM000670.2:g.63038944G>A GRCh38
NC_000008.10:g.63951503G>A , CM000670.1:g.63951503G>A GRCh37
NC_000008.9:g.64114057G>A NCBI36
NG_028126.1:g.5108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.464C>T
ENST00000679326.1:c.-176C>T ENSP00000504262.1:n.-176C>T
ENST00000260118.6:c.-176C>T ENSP00000260118.6:n.-176C>T
NM_003878.2:c.-176C>T NP_003869.1:n.-176C>T
XM_011517623.1:c.-176C>T XP_011515925.1:n.-176C>T