Canonical Allele Identifier: CA854142255
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1183775503
gnomAD v3: 8-63038858-G-T
gnomAD v4: 8-63038858-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038858G>T , CM000670.2:g.63038858G>T GRCh38
NC_000008.10:g.63951417G>T , CM000670.1:g.63951417G>T GRCh37
NC_000008.9:g.64113971G>T NCBI36
NG_028126.1:g.5194C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.550C>A
ENST00000677482.1:c.-90C>A ENSP00000504590.1:n.-90C>A
ENST00000679326.1:c.-90C>A ENSP00000504262.1:n.-90C>A
ENST00000260118.6:c.-90C>A ENSP00000260118.6:n.-90C>A
NM_003878.2:c.-90C>A NP_003869.1:n.-90C>A
XM_011517623.1:c.-90C>A XP_011515925.1:n.-90C>A