Canonical Allele Identifier: CA178367091
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs945880463
gnomAD v2: 8-63951639-C-G
gnomAD v3: 8-63039080-C-G
gnomAD v4: 8-63039080-C-G
MyVariant Identifiers: chr8:g.63951639C>G (hg19) chr8:g.63039080C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039080C>G , CM000670.2:g.63039080C>G GRCh38
NC_000008.10:g.63951639C>G , CM000670.1:g.63951639C>G GRCh37
NC_000008.9:g.64114193C>G NCBI36
NG_028126.1:g.4972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.328G>C
ENST00000679326.1:c.-312G>C ENSP00000504262.1:n.-312G>C
ENST00000260118.6:c.-312G>C ENSP00000260118.6:n.-312G>C
XM_011517623.1:c.-312G>C XP_011515925.1:n.-312G>C
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