Canonical Allele Identifier: CA1788923363
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs944112799
gnomAD v4: 8-63038777-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038777C>T , CM000670.2:g.63038777C>T GRCh38
NC_000008.10:g.63951336C>T , CM000670.1:g.63951336C>T GRCh37
NC_000008.9:g.64113890C>T NCBI36
NG_028126.1:g.5275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260118.7:c.-9G>A MANE Select ENSP00000260118.6:n.-9G>A
ENST00000518113.2:c.-9G>A ENSP00000504520.1:n.-9G>A
ENST00000523788.2:n.19G>A
ENST00000677327.1:n.631G>A
ENST00000677459.1:c.-9G>A ENSP00000503731.1:n.-9G>A
ENST00000677482.1:c.-9G>A ENSP00000504590.1:n.-9G>A
ENST00000678069.1:n.26G>A
ENST00000679326.1:c.-9G>A ENSP00000504262.1:n.-9G>A
ENST00000260118.6:c.-9G>A ENSP00000260118.6:n.-9G>A
ENST00000518966.5:n.25G>A
ENST00000520609.5:n.25G>A
ENST00000523788.1:n.26G>A
NM_003878.2:c.-9G>A NP_003869.1:n.-9G>A
XM_011517623.1:c.-9G>A XP_011515925.1:n.-9G>A
XM_011517623.3:c.-9G>A XP_011515925.1:n.-9G>A
NM_003878.3:c.-9G>A MANE Select NP_003869.1:n.-9G>A