Canonical Allele Identifier: CA2687440400
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039125-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039125T>G , CM000670.2:g.63039125T>G GRCh38
NC_000008.10:g.63951684T>G , CM000670.1:g.63951684T>G GRCh37
NC_000008.9:g.64114238T>G NCBI36
NG_028126.1:g.4927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.283A>C
ENST00000679326.1:c.-357A>C ENSP00000504262.1:n.-357A>C
ENST00000260118.6:c.-357A>C ENSP00000260118.6:n.-357A>C
XM_011517623.1:c.-357A>C XP_011515925.1:n.-357A>C