Canonical Allele Identifier: CA2687440139
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038913-C-T
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Genomic Alleles

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

Transcript Alleles

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