Canonical Allele Identifier: CA2687440036
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038845-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038845C>G , CM000670.2:g.63038845C>G GRCh38
NC_000008.10:g.63951404C>G , CM000670.1:g.63951404C>G GRCh37
NC_000008.9:g.64113958C>G NCBI36
NG_028126.1:g.5207G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.563G>C
ENST00000677482.1:c.-77G>C ENSP00000504590.1:n.-77G>C
ENST00000679326.1:c.-77G>C ENSP00000504262.1:n.-77G>C
ENST00000260118.6:c.-77G>C ENSP00000260118.6:n.-77G>C
NM_003878.2:c.-77G>C NP_003869.1:n.-77G>C
XM_011517623.1:c.-77G>C XP_011515925.1:n.-77G>C