Canonical Allele Identifier: CA2687440366
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039102-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039102T>C , CM000670.2:g.63039102T>C GRCh38
NC_000008.10:g.63951661T>C , CM000670.1:g.63951661T>C GRCh37
NC_000008.9:g.64114215T>C NCBI36
NG_028126.1:g.4950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.306A>G
ENST00000679326.1:c.-334A>G ENSP00000504262.1:n.-334A>G
ENST00000260118.6:c.-334A>G ENSP00000260118.6:n.-334A>G
XM_011517623.1:c.-334A>G XP_011515925.1:n.-334A>G