Canonical Allele Identifier: CA2687440193
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038963-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038963G>A , CM000670.2:g.63038963G>A GRCh38
NC_000008.10:g.63951522G>A , CM000670.1:g.63951522G>A GRCh37
NC_000008.9:g.64114076G>A NCBI36
NG_028126.1:g.5089C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.445C>T
ENST00000679326.1:c.-195C>T ENSP00000504262.1:n.-195C>T
ENST00000260118.6:c.-195C>T ENSP00000260118.6:n.-195C>T
NM_003878.2:c.-195C>T NP_003869.1:n.-195C>T
XM_011517623.1:c.-195C>T XP_011515925.1:n.-195C>T
Search 100 bp 5'
Search 100 bp 3'