Canonical Allele Identifier: CA2687440314
Gene: GGH HGNC NCBI

Linked Data

gnomAD v4: 8-63039064-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039064G>A , CM000670.2:g.63039064G>A GRCh38
NC_000008.10:g.63951623G>A , CM000670.1:g.63951623G>A GRCh37
NC_000008.9:g.64114177G>A NCBI36
NG_028126.1:g.4988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.344C>T
ENST00000679326.1:c.-296C>T ENSP00000504262.1:n.-296C>T
ENST00000260118.6:c.-296C>T ENSP00000260118.6:n.-296C>T
XM_011517623.1:c.-296C>T XP_011515925.1:n.-296C>T