Canonical Allele Identifier: CA2687440000

Gene: GGH

Linked Data

• gnomAD v4: 8-63038814-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038814C>A , CM000670.2:g.63038814C>A	GRCh38
NC_000008.10:g.63951373C>A , CM000670.1:g.63951373C>A	GRCh37
NC_000008.9:g.64113927C>A	NCBI36
NG_028126.1:g.5238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000677327.1:n.594G>T
ENST00000677482.1:c.-46G>T	ENSP00000504590.1:n.-46G>T
ENST00000679326.1:c.-46G>T	ENSP00000504262.1:n.-46G>T
ENST00000260118.6:c.-46G>T	ENSP00000260118.6:n.-46G>T
NM_003878.2:c.-46G>T	NP_003869.1:n.-46G>T
XM_011517623.1:c.-46G>T	XP_011515925.1:n.-46G>T