Canonical Allele Identifier: CA2687440368
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039103-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039103G>C , CM000670.2:g.63039103G>C GRCh38
NC_000008.10:g.63951662G>C , CM000670.1:g.63951662G>C GRCh37
NC_000008.9:g.64114216G>C NCBI36
NG_028126.1:g.4949C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.305C>G
ENST00000679326.1:c.-335C>G ENSP00000504262.1:n.-335C>G
ENST00000260118.6:c.-335C>G ENSP00000260118.6:n.-335C>G
XM_011517623.1:c.-335C>G XP_011515925.1:n.-335C>G