Canonical Allele Identifier: CA2687440283
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039038-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039038A>G , CM000670.2:g.63039038A>G GRCh38
NC_000008.10:g.63951597A>G , CM000670.1:g.63951597A>G GRCh37
NC_000008.9:g.64114151A>G NCBI36
NG_028126.1:g.5014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.370T>C
ENST00000679326.1:c.-270T>C ENSP00000504262.1:n.-270T>C
ENST00000260118.6:c.-270T>C ENSP00000260118.6:n.-270T>C
NM_003878.2:c.-270T>C NP_003869.1:n.-270T>C
XM_011517623.1:c.-270T>C XP_011515925.1:n.-270T>C