Canonical Allele Identifier: CA2687440329

Gene: GGH

Linked Data

• gnomAD v4: 8-63039075-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63039075G>A , CM000670.2:g.63039075G>A	GRCh38
NC_000008.10:g.63951634G>A , CM000670.1:g.63951634G>A	GRCh37
NC_000008.9:g.64114188G>A	NCBI36
NG_028126.1:g.4977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.333C>T
ENST00000679326.1:c.-307C>T	ENSP00000504262.1:n.-307C>T
ENST00000260118.6:c.-307C>T	ENSP00000260118.6:n.-307C>T
XM_011517623.1:c.-307C>T	XP_011515925.1:n.-307C>T