Canonical Allele Identifier: CA178366992
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1036270228
gnomAD v3: 8-63038956-G-A
gnomAD v4: 8-63038956-G-A
MyVariant Identifiers: chr8:g.63951515G>A (hg19) chr8:g.63038956G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038956G>A , CM000670.2:g.63038956G>A GRCh38
NC_000008.10:g.63951515G>A , CM000670.1:g.63951515G>A GRCh37
NC_000008.9:g.64114069G>A NCBI36
NG_028126.1:g.5096C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.452C>T
ENST00000679326.1:c.-188C>T ENSP00000504262.1:n.-188C>T
ENST00000260118.6:c.-188C>T ENSP00000260118.6:n.-188C>T
NM_003878.2:c.-188C>T NP_003869.1:n.-188C>T
XM_011517623.1:c.-188C>T XP_011515925.1:n.-188C>T
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