Canonical Allele Identifier: CA178366863
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs546748531
gnomAD v2: 8-63951424-G-C
gnomAD v3: 8-63038865-G-C
gnomAD v4: 8-63038865-G-C
MyVariant Identifiers: chr8:g.63951424G>C (hg19) chr8:g.63038865G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038865G>C , CM000670.2:g.63038865G>C GRCh38
NC_000008.10:g.63951424G>C , CM000670.1:g.63951424G>C GRCh37
NC_000008.9:g.64113978G>C NCBI36
NG_028126.1:g.5187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.543C>G
ENST00000677482.1:c.-97C>G ENSP00000504590.1:n.-97C>G
ENST00000679326.1:c.-97C>G ENSP00000504262.1:n.-97C>G
ENST00000260118.6:c.-97C>G ENSP00000260118.6:n.-97C>G
NM_003878.2:c.-97C>G NP_003869.1:n.-97C>G
XM_011517623.1:c.-97C>G XP_011515925.1:n.-97C>G
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