Canonical Allele Identifier: CA2687440250
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039010-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039010C>T , CM000670.2:g.63039010C>T GRCh38
NC_000008.10:g.63951569C>T , CM000670.1:g.63951569C>T GRCh37
NC_000008.9:g.64114123C>T NCBI36
NG_028126.1:g.5042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.398G>A
ENST00000679326.1:c.-242G>A ENSP00000504262.1:n.-242G>A
ENST00000260118.6:c.-242G>A ENSP00000260118.6:n.-242G>A
NM_003878.2:c.-242G>A NP_003869.1:n.-242G>A
XM_011517623.1:c.-242G>A XP_011515925.1:n.-242G>A
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