Canonical Allele Identifier: CA12790641
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs719235
gnomAD v2: 8-63951681-C-A
gnomAD v3: 8-63039122-C-A
gnomAD v4: 8-63039122-C-A
MyVariant Identifiers: chr8:g.63951681C>A (hg19) chr8:g.63039122C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039122C>A , CM000670.2:g.63039122C>A GRCh38
NC_000008.10:g.63951681C>A , CM000670.1:g.63951681C>A GRCh37
NC_000008.9:g.64114235C>A NCBI36
NG_028126.1:g.4930G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.286G>T
ENST00000679326.1:c.-354G>T ENSP00000504262.1:n.-354G>T
ENST00000260118.6:c.-354G>T ENSP00000260118.6:n.-354G>T
XM_011517623.1:c.-354G>T XP_011515925.1:n.-354G>T
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