Canonical Allele Identifier: CA2687440379
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039107-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039107C>T , CM000670.2:g.63039107C>T GRCh38
NC_000008.10:g.63951666C>T , CM000670.1:g.63951666C>T GRCh37
NC_000008.9:g.64114220C>T NCBI36
NG_028126.1:g.4945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.301G>A
ENST00000679326.1:c.-339G>A ENSP00000504262.1:n.-339G>A
ENST00000260118.6:c.-339G>A ENSP00000260118.6:n.-339G>A
XM_011517623.1:c.-339G>A XP_011515925.1:n.-339G>A