Canonical Allele Identifier: CA2687440380
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039108-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039108G>A , CM000670.2:g.63039108G>A GRCh38
NC_000008.10:g.63951667G>A , CM000670.1:g.63951667G>A GRCh37
NC_000008.9:g.64114221G>A NCBI36
NG_028126.1:g.4944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.300C>T
ENST00000679326.1:c.-340C>T ENSP00000504262.1:n.-340C>T
ENST00000260118.6:c.-340C>T ENSP00000260118.6:n.-340C>T
XM_011517623.1:c.-340C>T XP_011515925.1:n.-340C>T