Canonical Allele Identifier: CA461138538

Gene: GGH

Linked Data

• gnomAD v4: 8-63038748-C-G
• MyVariant Identifiers: chr8:g.63951307C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038748C>G , CM000670.2:g.63038748C>G	GRCh38
NC_000008.10:g.63951307C>G , CM000670.1:g.63951307C>G	GRCh37
NC_000008.9:g.64113861C>G	NCBI36
NG_028126.1:g.5304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.21G>C MANE Select	ENSP00000260118.6:p.Leu7=
ENST00000518113.2:c.21G>C	ENSP00000504520.1:p.Leu7=
ENST00000523788.2:n.48G>C
ENST00000677327.1:n.660G>C
ENST00000677459.1:c.21G>C	ENSP00000503731.1:p.Leu7=
ENST00000677482.1:c.21G>C	ENSP00000504590.1:p.Leu7=
ENST00000678069.1:n.55G>C
ENST00000679326.1:c.21G>C	ENSP00000504262.1:p.Leu7=
ENST00000260118.6:c.21G>C	ENSP00000260118.6:p.Leu7=
ENST00000518966.5:n.54G>C
ENST00000520609.5:n.54G>C
ENST00000523788.1:n.55G>C
NM_003878.2:c.21G>C	NP_003869.1:p.Leu7=
XM_011517623.1:c.21G>C	XP_011515925.1:p.Leu7=
XM_011517623.3:c.21G>C	XP_011515925.1:p.Leu7=
NM_003878.3:c.21G>C MANE Select	NP_003869.1:p.Leu7=