Canonical Allele Identifier: CA2687440202
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038971-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038971C>A , CM000670.2:g.63038971C>A GRCh38
NC_000008.10:g.63951530C>A , CM000670.1:g.63951530C>A GRCh37
NC_000008.9:g.64114084C>A NCBI36
NG_028126.1:g.5081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.437G>T
ENST00000679326.1:c.-203G>T ENSP00000504262.1:n.-203G>T
ENST00000260118.6:c.-203G>T ENSP00000260118.6:n.-203G>T
NM_003878.2:c.-203G>T NP_003869.1:n.-203G>T
XM_011517623.1:c.-203G>T XP_011515925.1:n.-203G>T