Canonical Allele Identifier: CA2687440358
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039097-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039097T>A , CM000670.2:g.63039097T>A GRCh38
NC_000008.10:g.63951656T>A , CM000670.1:g.63951656T>A GRCh37
NC_000008.9:g.64114210T>A NCBI36
NG_028126.1:g.4955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.311A>T
ENST00000679326.1:c.-329A>T ENSP00000504262.1:n.-329A>T
ENST00000260118.6:c.-329A>T ENSP00000260118.6:n.-329A>T
XM_011517623.1:c.-329A>T XP_011515925.1:n.-329A>T