Canonical Allele Identifier: CA2687440322
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039071-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039071C>T , CM000670.2:g.63039071C>T GRCh38
NC_000008.10:g.63951630C>T , CM000670.1:g.63951630C>T GRCh37
NC_000008.9:g.64114184C>T NCBI36
NG_028126.1:g.4981G>A

Transcript Alleles

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