Canonical Allele Identifier: CA178366918
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1048890363
gnomAD v3: 8-63038902-C-T
gnomAD v4: 8-63038902-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038902C>T , CM000670.2:g.63038902C>T GRCh38
NC_000008.10:g.63951461C>T , CM000670.1:g.63951461C>T GRCh37
NC_000008.9:g.64114015C>T NCBI36
NG_028126.1:g.5150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.506G>A
ENST00000679326.1:c.-134G>A ENSP00000504262.1:n.-134G>A
ENST00000260118.6:c.-134G>A ENSP00000260118.6:n.-134G>A
NM_003878.2:c.-134G>A NP_003869.1:n.-134G>A
XM_011517623.1:c.-134G>A XP_011515925.1:n.-134G>A