Canonical Allele Identifier: CA1788923542
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1804971002
gnomAD v4: 8-63038996-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038996G>A , CM000670.2:g.63038996G>A GRCh38
NC_000008.10:g.63951555G>A , CM000670.1:g.63951555G>A GRCh37
NC_000008.9:g.64114109G>A NCBI36
NG_028126.1:g.5056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.412C>T
ENST00000679326.1:c.-228C>T ENSP00000504262.1:n.-228C>T
ENST00000260118.6:c.-228C>T ENSP00000260118.6:n.-228C>T
NM_003878.2:c.-228C>T NP_003869.1:n.-228C>T
XM_011517623.1:c.-228C>T XP_011515925.1:n.-228C>T
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