Canonical Allele Identifier: CA2687440047

Gene: GGH

Linked Data

• gnomAD v4: 8-63038858-G-A

Genomic Alleles

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

Transcript Alleles

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