Canonical Allele Identifier: CA2687439970
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63038792-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038792T>A , CM000670.2:g.63038792T>A GRCh38
NC_000008.10:g.63951351T>A , CM000670.1:g.63951351T>A GRCh37
NC_000008.9:g.64113905T>A NCBI36
NG_028126.1:g.5260A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260118.7:c.-24A>T MANE Select ENSP00000260118.6:n.-24A>T
ENST00000518113.2:c.-24A>T ENSP00000504520.1:n.-24A>T
ENST00000523788.2:n.4A>T
ENST00000677327.1:n.616A>T
ENST00000677459.1:c.-24A>T ENSP00000503731.1:n.-24A>T
ENST00000677482.1:c.-24A>T ENSP00000504590.1:n.-24A>T
ENST00000678069.1:n.11A>T
ENST00000679326.1:c.-24A>T ENSP00000504262.1:n.-24A>T
ENST00000260118.6:c.-24A>T ENSP00000260118.6:n.-24A>T
ENST00000518966.5:n.10A>T
ENST00000520609.5:n.10A>T
ENST00000523788.1:n.11A>T
NM_003878.2:c.-24A>T NP_003869.1:n.-24A>T
XM_011517623.1:c.-24A>T XP_011515925.1:n.-24A>T
XM_011517623.3:c.-24A>T XP_011515925.1:n.-24A>T
NM_003878.3:c.-24A>T MANE Select NP_003869.1:n.-24A>T