Canonical Allele Identifier: CA178367023
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1002952229
gnomAD v3: 8-63038985-C-T
gnomAD v4: 8-63038985-C-T
MyVariant Identifiers: chr8:g.63951544C>T (hg19) chr8:g.63038985C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038985C>T , CM000670.2:g.63038985C>T GRCh38
NC_000008.10:g.63951544C>T , CM000670.1:g.63951544C>T GRCh37
NC_000008.9:g.64114098C>T NCBI36
NG_028126.1:g.5067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.423G>A
ENST00000679326.1:c.-217G>A ENSP00000504262.1:n.-217G>A
ENST00000260118.6:c.-217G>A ENSP00000260118.6:n.-217G>A
NM_003878.2:c.-217G>A NP_003869.1:n.-217G>A
XM_011517623.1:c.-217G>A XP_011515925.1:n.-217G>A
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