Canonical Allele Identifier: CA1788923452
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1804967988
gnomAD v4: 8-63038873-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038873T>C , CM000670.2:g.63038873T>C GRCh38
NC_000008.10:g.63951432T>C , CM000670.1:g.63951432T>C GRCh37
NC_000008.9:g.64113986T>C NCBI36
NG_028126.1:g.5179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.535A>G
ENST00000679326.1:c.-105A>G ENSP00000504262.1:n.-105A>G
ENST00000260118.6:c.-105A>G ENSP00000260118.6:n.-105A>G
NM_003878.2:c.-105A>G NP_003869.1:n.-105A>G
XM_011517623.1:c.-105A>G XP_011515925.1:n.-105A>G