Canonical Allele Identifier: CA2687440052
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038864-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038864G>T , CM000670.2:g.63038864G>T GRCh38
NC_000008.10:g.63951423G>T , CM000670.1:g.63951423G>T GRCh37
NC_000008.9:g.64113977G>T NCBI36
NG_028126.1:g.5188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.544C>A
ENST00000677482.1:c.-96C>A ENSP00000504590.1:n.-96C>A
ENST00000679326.1:c.-96C>A ENSP00000504262.1:n.-96C>A
ENST00000260118.6:c.-96C>A ENSP00000260118.6:n.-96C>A
NM_003878.2:c.-96C>A NP_003869.1:n.-96C>A
XM_011517623.1:c.-96C>A XP_011515925.1:n.-96C>A
Search 100 bp 5'
Search 100 bp 3'