Canonical Allele Identifier: CA2687440236
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039001-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039001C>A , CM000670.2:g.63039001C>A GRCh38
NC_000008.10:g.63951560C>A , CM000670.1:g.63951560C>A GRCh37
NC_000008.9:g.64114114C>A NCBI36
NG_028126.1:g.5051G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.407G>T
ENST00000679326.1:c.-233G>T ENSP00000504262.1:n.-233G>T
ENST00000260118.6:c.-233G>T ENSP00000260118.6:n.-233G>T
NM_003878.2:c.-233G>T NP_003869.1:n.-233G>T
XM_011517623.1:c.-233G>T XP_011515925.1:n.-233G>T
Search 100 bp 5'
Search 100 bp 3'