Canonical Allele Identifier: CA2687440257
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039015-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039015A>C , CM000670.2:g.63039015A>C GRCh38
NC_000008.10:g.63951574A>C , CM000670.1:g.63951574A>C GRCh37
NC_000008.9:g.64114128A>C NCBI36
NG_028126.1:g.5037T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.393T>G
ENST00000679326.1:c.-247T>G ENSP00000504262.1:n.-247T>G
ENST00000260118.6:c.-247T>G ENSP00000260118.6:n.-247T>G
NM_003878.2:c.-247T>G NP_003869.1:n.-247T>G
XM_011517623.1:c.-247T>G XP_011515925.1:n.-247T>G
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