Canonical Allele Identifier: CA2687440311
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039062-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039062G>T , CM000670.2:g.63039062G>T GRCh38
NC_000008.10:g.63951621G>T , CM000670.1:g.63951621G>T GRCh37
NC_000008.9:g.64114175G>T NCBI36
NG_028126.1:g.4990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.346C>A
ENST00000679326.1:c.-294C>A ENSP00000504262.1:n.-294C>A
ENST00000260118.6:c.-294C>A ENSP00000260118.6:n.-294C>A
XM_011517623.1:c.-294C>A XP_011515925.1:n.-294C>A