Canonical Allele Identifier: CA2687440138
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038913-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038913C>G , CM000670.2:g.63038913C>G GRCh38
NC_000008.10:g.63951472C>G , CM000670.1:g.63951472C>G GRCh37
NC_000008.9:g.64114026C>G NCBI36
NG_028126.1:g.5139G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.495G>C
ENST00000679326.1:c.-145G>C ENSP00000504262.1:n.-145G>C
ENST00000260118.6:c.-145G>C ENSP00000260118.6:n.-145G>C
NM_003878.2:c.-145G>C NP_003869.1:n.-145G>C
XM_011517623.1:c.-145G>C XP_011515925.1:n.-145G>C