Canonical Allele Identifier: CA2687440373
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039105-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039105T>A , CM000670.2:g.63039105T>A GRCh38
NC_000008.10:g.63951664T>A , CM000670.1:g.63951664T>A GRCh37
NC_000008.9:g.64114218T>A NCBI36
NG_028126.1:g.4947A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.303A>T
ENST00000679326.1:c.-337A>T ENSP00000504262.1:n.-337A>T
ENST00000260118.6:c.-337A>T ENSP00000260118.6:n.-337A>T
XM_011517623.1:c.-337A>T XP_011515925.1:n.-337A>T